Genetics

M O D U L A R S Y S T E M
GENETICS
Osman ARPACI
Bayram KENCÝ
Musa ÖZET
Zeki DENGÝZ
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ve Eðitim Araçlarý San. Tic. A.Þ.
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Biology is a rapidly developing branch of science. The major advances that are made,
continuously affect our life on earth. Some of these important advances are included here.
The results of a recent survey on the attitudes to existing literature available to high school
students showed that many were unhappy with the material used in teaching and learning.
Those questioned identified a lack of the following; accompanying supplementary material to
main text books, current information on new developments, clear figures and diagrams and
insufficient attention to design and planning of experiments.
This book aims to improve the level of understanding of modern biology by inclusion of
the following; main texts, figures and illustrations, extensive questions, articles and experiments.
Each topic is well illustrated with figures and graphs to ease understanding. Supplementary
material in the form of posters, transparencies and cassettes will shortly be available. Profiles
on common diseases are included in each chapter to inform, generate further interest and
encourage students to explore the subject further. The 'Read me' articles supply up-to-date
information on important issues related to each unit but outside the requirements of the
current curriculum. It is the intention and hope of the authors that the contents of this book
will help to bridge the current gap in the field of biology at this level.
This book has been carefully reviewed and the language is considered suitable for
students for whom English is a second language.
All erros in the previous edition have been corrected.
Acknowledgements
We are grateful to all the people who have helped with this book. Our special thanks to
Salih TEKER, BISSENBAEV Amangeldy, Gökhan BENDAÞ for their contributions and
suggestions.
We would like to thank all the Biology teachers in different parts of the world who have
contributed their precious time and experience to this book.
We also wish to acknowledge the experts Cengiz ARAS, Duran KALA, Talgat
YECHSHZHANOV, Erkan CENGÝZ and Tan ERDOÐAN. These experts gave us the benefit of
their knowledge during writing in several subjects of biology. Last but by no means least, We
are particularly grateful our family for their patient, support and constant encouragement
during the writing of this book.
The authors
I. Genetics Multiple Alleles . . . . . . . . . . . . . . . .25
Genetics and The Gene Idea . . . . . . . . . .8 Epistasis . . . . . . . . . . . . . . . . . . . .26
Pleiotropy . . . . . . . . . . . . . . . . . . . .27
The Concepts of Genetics . . . . . . . . .9
Polygenic inheritance . . . . . . . . . . .27
The Law of Probability and
The Chromosomal Basis Of
its Applications . . . . . . . . . . . . . . . .10
Inheritance . . . . . . . . . . . . . . . . . . . . . .28
Finding the gamete type . . . . . . . . .11
Genes and Chromosomes . . . . . . . . . . .28
The Rules of Mendel and
Genetic Linkage . . . . . . . . . . . . . . .29
Their Application . . . . . . . . . . . . . . . . . .12
Chromosome Maps . . . . . . . . . . . . .31
The Principle of Independent
Sex Determination . . . . . . . . . . . . . . . .32
Assortment . . . . . . . . . . . . . . . . . .12
Environmental factors . . . . . . . . . . .32
The Principle of Dominance . . . . . . .12
Genotypes . . . . . . . . . . . . . . . . . . .32
The Principle of Segregation . . . . . .12
XX-XY Mechanism . . . . . . . . . . . . . .33
Transmission of trait . . . . . . . . . . . .12
ZZ-ZW Mechanism . . . . . . . . . . . . . .33
Mendel Crossing . . . . . . . . . . . . . . . . . .14
XX-X0 Mechanism . . . . . . . . . . . . . .33
Monohybrid Cross . . . . . . . . . . . . . .14
Haploid-Diploid Mechanism . . . . . . .33
Dihybrid Cross . . . . . . . . . . . . . . . .15
The Molecular Basis Of Inheritance . . . .34
Trihybrid Cross . . . . . . . . . . . . . . . .16
The Connection Of Gene
Test Cross . . . . . . . . . . . . . . . . . . .17
And Protein . . . . . . . . . . . . . . . . . .35
Test Your Knowledge . . . . . . . . . . . . . .19
Gene Regulation in Prokaryotes . . . .37
Choose The Correct Alternative . . . .19
The Lactose-Operon . . . . . . . . . . . .37
Genetics Problems . . . . . . . . . . . . .20
The Tryptophan Operon . . . . . . . . . .39
II. Extending Mendelian Genetics
Gene Regulation in Eukaryotes . . . .40
Extending Mendelian Genetics . . . . . . . .22
Incomplete Dominance . . . . . . . . . .23
Co-dominance . . . . . . . . . . . . . . . .24
III. Changes In Genetic Material Sex-linked Inheritance in Human . . .59
Changes in Genetic Material . . . . . . . . .46 X-linked Inheritance . . . . . . . . . .59

Y-linked Inheritance . . . . . . . . . . .61
Chromosomal Mutations . . . . . . . . .46
XY-linked Inheritance . . . . . . . . . .61
Structural Changes in
Blood Type in Humans . . . . . . . . . .62
Chromosomes . . . . . . . . . . . . . . . .47
Human Genetic Diseases . . . . . . . .65
Deletion . . . . . . . . . . . . . . . . . . .47
Nondisjunction in Human . . . . . . . . .65
Inversion . . . . . . . . . . . . . . . . . .47
Autosomal Genetic Diseases
Duplication . . . . . . . . . . . . . . . . .47
in Humans . . . . . . . . . . . . . . . . . . .66
Translocation . . . . . . . . . . . . . . .47
Recessive Autosomal Disorders .67
Changes in The Number of
Dominant Autosomal Disorders . .68
Chromosomes . . . . . . . . . . . . . . . .48
Diagnosis and Treatment of
Euploidy . . . . . . . . . . . . . . . . . . .48
Genetic Diseases . . . . . . . . . . . . . .69
Aneuploidy . . . . . . . . . . . . . . . . .49
Gene Mutations . . . . . . . . . . . . . . .50
Changing of AT/GC Ratio . . . . . . .50
Change in The Order of
V. Population Genetics
Nucleotide Sequence . . . . . . . . .50
Population Genetics . . . . . . . . . . . . . . .76
Reduction of Nucleotides . . . . . .51
Population . . . . . . . . . . . . . . . . . . .77
Nondisjunction . . . . . . . . . . . . . . . .52
Gene Pool . . . . . . . . . . . . . . . . . . .77
Gene Frequency . . . . . . . . . . . . . . .78
Hardy-Weinberg Principle . . . . . . . . .78
IV. Human Genetics
Intermarriages . . . . . . . . . . . . . . . . . . .81
Human Genetics . . . . . . . . . . . . . . . . . .56
Domestication . . . . . . . . . . . . . . . . . . .82
Human Karyotype and Ýdiogram . . . .57
Inter-species Hybridization . . . . . . . .82
Pedigree . . . . . . . . . . . . . . . . . . . . .58
Articifial Fertilization . . . . . . . . . . . . .83
Autosomal Pedigree . . . . . . . . . .58
Polyploidy . . . . . . . . . . . . . . . . . . . .83
Gonosomal Pedigree . . . . . . . . . .58
Gene Transfer . . . . . . . . . . . . . . . . .83
Factors That Unbalance Populations . . . .85
Migration . . . . . . . . . . . . . . . . . . . .85
Genetic Drift . . . . . . . . . . . . . . . . . .85
Isolation . . . . . . . . . . . . . . . . . . . . .86
Mutation . . . . . . . . . . . . . . . . . . . . .86
Natural Selection . . . . . . . . . . . . . .86
Mating Partner Selection . . . . . . . . .86
Variation . . . . . . . . . . . . . . . . . . . . . . .87
Modifications . . . . . . . . . . . . . . . . . . . .88
Asexual Reproduction . . . . . . . . . . .90
Sexual Reproduction . . . . . . . . . . . .90
VI. Appendix
Understanding Biological Terms . . . . . . .94
Scientific Measurement . . . . . . . . . . . . .95
Glossary . . . . . . . . . . . . . . . . . . . . . . . .96
Reference . . . . . . . . . . . . . . . . . . . . .104
GENETICS
*MENDEL AND THE GENE IDEA*
I. GENETICS
Genetics is derived from the term genesis, which means Creation, to give
birth. Today, we can describe genetics as the science which investigates the for-
The father of mation of traits, their development, and their transmission from generation to gen-
genetics was a eration. This science also studies the causes of variation occurring in living things.
monk named Briefly, genetics is the science which investigates heredity and diversity.
Gregor Mendel, and the
first genetics research site Genetics principles are complex, but their outcomes, such as the fact that chil-
was the garden of his dren resemble their parents seem very simple and ordinary. Genetic knowledge
abbey. The variant gene allowed vast improvement in productivity of domesticated plant and animal
that causes sickle-cell dis- species used for food. Genetic knowledge has also been a key component of the
ease can help protect you revolution in health and medical care in this century.
against malaria. If you are
Biotechnology directly alters the genetic material of an organism and allows
female and color blind it is
segments of DNA to be moved to different locations or removed from the DNA
probably your father's
molecule, thus acquiring new genes and new genetic traits. About 3-5% of the
"fault." Hemophilia has
GENETICS
world populations (200 million people) are estimated to be afflicted by serious

plagued the royal families
genetic disease. Genetic knowledge has already allowed for treatment and genet-
of Europe, apparently orig-
ic counseling (to prevent recurrence) of Down's syndrome and PKU, production of
inating in one of the sons
antibiotic resistant organisms. Biotechnology offers the hope of creating more
of Queen Victoria.
effective antibiotics and human growth hormone-treatment for dwarfism.
8
The concepts of genetics
The basic concepts of genetics should be learned to understand genetics bet-
ter. Some of these important concepts are given below:
Heredity: The passing on traits from parents to their offspring.
Trait: A characteristic of an organism that is determined genetically, environ-
mentally or by both. Traits can pass from parents to their young by gene.
Gene: A segment of DNA that codes a particular protein. It is the basic unit
of Hereditary. Genes are found on chromosomes in the nucleus of eukary-
otic cells. Genes that carry hereditary information pass to the offspring via
reproductive cells.
Allele: An allele is the one pair of genes, one coming from the mother, the
other from the father, in the chromosomes of a living thing. Alleles can be
similar or different Alleles of a particular trait are at the same location (locus) Figure-1
1.1.: An allele is the one pair of
on homologous chromosome. These gene pairs control one trait (two ge- genes (MM), one coming from the
nes responsible for the same trait). mother, the other from the father
Homozygote: Having identical alleles for a given trait. (AA, BB, cc, dd)
Heterozygote: Having two different alleles for a given trait. (Aa Bb Cc)
Dominant gene: The gene that is always expressed and prevents the expres-
sion of another gene.
Recessive gene: The form of gene that is expressed only when paired (aa).
Genotype: The complete set of genes of a living thing or the genetic make
up of organism.
Phenotype: The physical, visible characteristics of organism (green seed,
brown eye, etc.). The phenotype of a living thing is determined by its genoty-
pe and environment. Figure-1
1.2.: Homozygote yellow and
Heterozygote yellow pea seeds
Independent genes: Alleles for different traits located on different chromo-
somes.
Mendel and the gene idea

Linked gene: More than one gene on a single chromosome. Linked genes
can be separated from each other by crossing-over in meiosis. The proba-
bility that two genes will be separated by crossing over is proportional to the
distance between them in the chromosome.
Principle of segregation: During meiosis, the alleles that control one character se-
parate: one goes to one gamete, the other goes to the other gamete.
P (Parental) Cross: Mating of the father and mother.
F (Filia: Generation): The individuals produced by crossing the father and
mother.
Figure-1
1.3.: Independent and linked
genes
9
The product rule The law of probability and its applications
may be stated like
Probability is the branch of mathematics that predicts the chances that a cer-
this: The probability
tain event will occur . It is the study of operation of the laws of chance. Chance
of independent events
refers to the likelihood of a certain event happening such as having "heads" come
occurring together is equal
up when a coin is tossed.
to the product of the prob-
abilities of these events
occurring separately. The Probability and Genetics
probability of the one coin The segregation of alleles into gametes and the random recombination of alle-
landing heads up is 1/2, les in fertilization demonstrate simple rules of probability. Geneticists use probabil-
and the probability of the ity to predict the outcomes of crosses.
other coin showing heads
is 1/2. The probability for You are probably familiar with the idea of probability. What are the chances that
heads on both coins is the a flip of a coin will come up heads? The chance of the coin landing heads up is
product of their separate one out of two, or 1/2.
probabilities (1/2x1/2=1/4)
When working with probabilities, remember that the outcomes of independent
events do not influence one another. If you obtain three heads in a row when flip-
ping a coin, the probability that the next toss will land heads up is still 1/2. Two
important principles of probability are useful in studying genetics.
The rule of independent events: The first principle is called the rule of
independent events. The rule of independent events is as follows: Previous
events do not affect the probability of later occurrences of the same event.
Suppose you toss a coin, and it comes up heads. What is the probability of
getting heads if you toss the coin again? The first time the coin is tossed,
the probability of getting heads is 1/2. On a second toss or
any toss after that, the probability of tossing heads is still 1/2.
Each toss of a coin is independent of any other toss of the
same nickel.
The product rule: The probability of 2 independent
events happening together is equal to the product of
their separate probabilities.
When we toss two coins at the same time, the probability
of both coin coming up tails is 1/4, the probability of both
coming up heads is 1/4, and the probability of one head
and one tail is 1/2.
⎛1 1 ⎞ ⎛1 1 ⎞ 1 1
⎜ H + T ⎟ ×⎜ H + T ⎟ = TT + HT + 1 HH
⎝2 2 ⎠ ⎝2 2 ⎠ 4 2 4
First event Second Event Probability of both together

GENETICS
The rules of probability are usually used in genetic studi-

es. Particularly, the gamete types contributed by individuals
Figure-1
1.4: The segregation of alleles into gametes and the random are found by applying the rules of probability. (Figure-1.4)
recombination of alleles in fertilization demonstrate simple rules of
probability.
10
Finding the gamete type In sexually
reproducing
Determining and recording the gamete type are very important in genetics stu-
organisms, three
dies. Genetic crosses cannot be made without knowing the gamete type. Therefo-
processes lead to most
re, before crossing the subjects, the genes (homozygous, heterozygous, indepen-
of the genetic variation:
dent), that form the traits and determine the types of gametes, should be known.
independent orienta-
tion of chromosomes in
meiosis, crossing over
of chromosomes in
meiosis and random
fertilization.
The number
of types of ga-
metes produced
for traits that have hete-
rozygous genes can be
calculated by the 2n for-
mula, where n is the total
number of traits that are
heterozygous.

Theoretically,
one human
couple is capa-
ble of conceiving a
number of genetically
different offspring that
is far greater than the
number of humans
who have ever lived.
11
The rules of Mendel and their application
Gregor Mendel who is the father of genetics used gar-
den peas to demonstrate important principles of inheri-
tance. Modern principles of Inheritance are based on
GREGOR MENDEL AND THE BIRTH OF GENETICS Mendel's work. Mendel's breeding experiments let him to
certain conclusions about the mechanisms of heredity,
some of which later scholars restored as Mendel's principles
Mendel, in his publication of Inheritance
called "Study with plant
The Principle of Independent assortment: Alleles
hybrids" in 1886 stated that
for one characteristic behave independently from alle-
hereditary material is not a les for other characteristics during (Meiosis) gamete
combination of body cells but formation- when two or more traits are examined in a
the combination of unchan- single cross, each trait is inherited without relation to
ging units (called genes) and the other traits. This occurs because the alleles for
each trait assort into the gametes by chance, inde-
these units are inherited from
pendently of one another. All possible combinations of
generation to generation in- genes will thus occur in the gametes.
dependently, and make new
The Principle of Dominance: When two alternate
combinations. Although the
forms of the same gene are present in an individual
importance and validity of these statements are still true, they normally only one- the dominant allele - is expressed
were not accepted and understood in his life. (become visible on phenotype).
Later, De Vries, Correns and Tschermak proved the statements The Principle of Segregation: When gametes are
of Mendel in their works. These scientists published their fin- formed in Meiosis, the two alleles of each gene segre-
dings in the title "Laws of Mendel" in 1900. For this reason, gate (separate) from one another, and each gamete
receives only one allele.
the year 1900 is the birth year of Mendel and Mendel is accep-
ted as the founder of this science. The term "Genetics" was Transmission of trait: Genes, which occur in pairs
first used by Bateson, in 1906. Another scientist, Johannson, that are called alleles, transmit inherited traits to new
offspring. The first answers to the questions of how
was first to use the word "gene" for the heritable units in traits are transferred from generation to generation,
1909. At the beginning of the 20th century, it was understo- and how heredity works, were given in the 1860s by
od that there are units responsible for inheritance in orga- researcher Gregor Mendel. Mendel used pea plants in
nisms. These units, called genes, are carried on chromosomes his experiments.
and transferred to the next generation according to certain mat- Pea plants have a lot of features which are available for
hematical rules. However, the physical and chemical nature of crossing. These plants:
the hereditary material was not understood until 1940-50. Produce five generations in a short time.
With the understanding of molecular structure and properties of
hereditary material, genetic processes are studied at the mole- Have many different types.
cular level and new branches of genetics were born. Examples Have genes that are independent. The genes found
are gene physiology, population genetics, cytogenetics, molecu- on different chromosomes control different traits.
GENETICS
lar biology and genetic engineering. For this reason, genetics Have reproductive structures completely enclosed by
has become the most interesting science and attracts the inte- the petals. Self-fertilization is easily prevented, and the
rest of all people. plants are easily protected from other sources of pol-
len.
12
At the beginning of the experiments, Mendel chose true
breeding (individuals carrying homozygous genes) lines ex-
hibiting opposite features of the traits. Mendel’s studies pro-
ceeded as follows:
He prevented self-fertilization by removing the male ant-
hers from the parent plants. Then, he transferred the sta-
mens of flowers exhibiting the opposite feature to the stigma
of the flower whose stamens had been removed earlier and
ensured the plants to cross fertilize.
Figure-1
1.5: Pea plants have male and female reproductive organs on
Steps of pollen transfer the same flower covered by petals to prevent self-pollination. In this
way, the plant characteristics are better observed.
Open flower
Reveals the pollen-producing anthers and the tip
of the carpel (the female part that receives the
pollen)
Remove the anther from the flower
Transfer pollen from anthers to carpel of different
plant (pollination)
Fertilization occurs
Plant the seeds
Observe the new offspring
Mendel observed that the offspring produced from this

experiment resembled only one of the parents. Mendel repe-
ated the experiment many times which gave the same re-
sult. That is, the offspring (F1) resembled each other and
one of the parents.
Mendel demonstrated this by crossing peas with wrink-
led and rounded seeds. In peas, the gene for rounded seeds

is dominant, the gene for wrinkled seeds is recessive. When
peas carrying these two traits were crossed, all F1 individu-
als were the same as each other and rounded. In these types
of crosses, the features that appear in F1 are called domi-
nant, the features that aren’t seen are called recessive. In
cross-breeding, dominant features are expressed with capi-
tal letters, recessive features are expressed with the lowerca-
se form of the same letter.
As seen in the figure left, Mendel identified 7 pairs of in-
dependent traits controlled by the genes of the pea plants
he studied. This is the reason for the compelling results ac-
hieved in Mendel’s study. (Figure-1.5)
13
Mendel crossing
Mendel used 7 traits and worked on them to determine law of
inheritance. Mendel performed 3 different kinds of crossbreeds:
Monohybrid Cross
A monohybrid cross is a cross between two individuals in
which only one trait is being studied.
For example, let’s make a cross between homozygous domi-
nant, yellow-seeded pea plants and homozygous recessive, gre-
en-seeded pea plants, and let’s try to find the F1 and F2 offspring.
Pay attention to the example, phenotype ratio 3:1, genotype

ratio 1:2:1. (Figure-1.6)
Sample Question: In mice; black (B) fur color is dominant

over brown (b) fur color. A heterozygous black mouse is mated
GENETICS
with a brown mouse.

What will be the probable genotypic and phenotypic ratios of
Figure 1.6.: Monohybrid cross and F1 , F2 generations. their offspring?
14
Dihybrid Cross
A cross between two organisms in which two different traits are being studied.
In a dihybrid cross, the phenotype ratio at F2 is 9:3:3:1 (this ratio was 3:1 in mo-
nohybrid cross).
For example, let’s

make a cross between
homozygous dominant,
yellow-round seeded
pea plants and ho-
mozygous recessive,
green-wrinkled seeded
pea plants, and let’s try
to find the F1 and F2
offspring.

Phenotypic ratio
Sample question: Consider two different human traits, one involving the 9:3:3:1
tongue and the other the ears. Each trait is controlled by single allele. The abil-
ity to curl the tongue is determined by a dominant allele, the absence of this tal-
9-Yellow-Round
ent is recessive. The allele that results in free ear lobes is dominant, attached or
absent of ear lobes is recessive. A man who has heterozygous free ear lobe-curl- 3-Green-Round
ing tongue is married to a woman who has the same genotype as her husband. 3-Yellow-Wrinkled
What will be the probable genotypic and phenotypic ratios of their children? 1-Green-Wrinkled
15
Trihybrid Cross
The cross between two individuals in which three
different traits are being studied. In a trihybrid cross,
the most important thing is writing the gamete type.
After writing the gamete type, we can determine the
traits of the offspring by making a table (Table-1.1).
The phenotype ratio in a trihybrid cross is
27:9:9:9:3:3:3:1.
Example:
A purple flowered and round-yellow seeded pea
plant is crossed with a white-flowered, and wrinkled
green seeded plant. According to this, the F1 generation
and the types of gametes.
P: Purple flower R: Round seed
p: White flower r: Wrinkled seed
Y: Yellow seed
y: Green seed
Table-1
1.1: Complete table above and write
the genotypic and phenotypic ratios. As explained, Mendel found that each tested trait caused something to change
in his studies. That is to say, he showed that individuals of the first generation (F1
) never exhibit the features of both their mother and father.
The offspring resembled only the mother or the father. In further studies, it was
found that animals exhibit these same features. From his studies, Mendel concluded
the following:
Mendel’s findings can be summarized as follows:

Traits are inherited through genes.
Phenotypic ratio
27:9:9:9:3:3:3:1 The traits of a pea plant are related to its alleles, which can be the same or
27-Purple-Round-Yellow different.
9-Purple-Round-green If the pair of alleles forming a gene are different, the effect of the dominant
9-Purple-wrinkled-Yellow allele appears in the phenotype (the recessive allele remains hidden).
9-Purple-wrinkled-green Variety in organisms arises from the fact that, during fertilization, the game-
tes combine randomly, allowing the genes for various traits to form new com-
3-white-Round-Yellow
binations.
GENETICS
3-white -Round-green
Traits are visible in offspring in predictable ratios, according to the principals
3-white -wrinkled-Yellow of probability.
1-white -wrinkled-green
16
Back hybridization (Test Cross)
Figure-1
1.7.: Test cross
To learn whether an individual with a dominant trait is
homozygous or heterozygous, a cross is made with an in-
dividual with the recessive trait. This is called back hybridi-
zation or test cross. It’s usually not possible to determine
an organism’s genotype by looking at its phenotype for so-
me trait. For example, it’s impossible to know whether the
genotype responsible for the yellow seeded pea plant is YY
or Yy just by observing its phenotype. (Figure-1.7)
To determine whether the genotype related to seed tex-
ture for that plant is homozygous (YY) or heterozygous
(Yy), it is crossed with a pea plant that is homozygous and
green (yy). If all offspring have yellow seeds, our pea plant
is homozygous yellow (YY). If 50% of the offspring have
yellow (Yy) and 50% have green (yy) seeds, the genes of
our plant are heterozygous (Yy).
Mendel’s third principle and test crosses are used to
improve breeds of plants and animals.
In wheat, resistance to cold and high productivity are
known to be recessive traits. The process used to produce
a wheat plant that is both resistant to cold and highly pro-

ductive from two wheat plants, one of which is resistant to
cold and has low productivity, the other of which is not re-
sistant to cold but highly productive, is illustrated in the
figure-1.8. Some features such as productivity and quality
in animals or plants can be improved through better care.
Egg production in hens and meat production can be
increased in this way. But that increment can not increase
beyond a certain ratio because the genetic capacity of an
organism won’t allow it. In that case, genotypically low
productive animals or plants can be hybridized with ge-
notypically high productive ones to produce high produc-
tive breeds. Figure-1
1.8.: Production of cold-resistant and more productive wheat.
17
Egg production in
hens and meat
production can be
increased in this way. But
that increment can not in-
crease beyond a certain ra-
tio because the genetic ca-
pacity of an organism
won’t allow it.
A breed of hen that produces more meat and eggs can be produced from an
existing breed with more meat and fewer eggs and another one with less meat and
more eggs.
As seen above, to know which hens laying more eggs in the F2 generation are
GENETICS
the homozygous and heterozygous individuals.
18
CHOOSE THE CORRECT ALTERNATIVE
1. Which of the following is the science of heredity? 7. AABbCcDD pea plants can produce _____________
type(s) of gametes, but a GGTTCCYy plant can
A. Genetics B. Genotype
produce _____________ type(s) of gametes.
C. Heterozygous D. Homozygous
A. one ... one B. four ... two
E. Punnett Square
C. four ... one D. eight ... two
E. eight... one
2. An organism in which the paired genes for a spe-

cific trait are the same is_____.
A. Genetics B. Genotype 8. A red flowered pea crossed with a white flowered
pea produces all red flowered offspring. If two of
C. Heterozygous D. Homozygous the F1 pea plants were crossed, their offspring
E. Punnett Square would most likely be_____.
A. All red B. all white
C. 3 red:1 white D. 3 white:1 red
3. What called when a trait that is hidden in the first E. 2 red:2 white
generation?
A. Phenotype B. Allele C. Recessive
9. If two organisms with genotype ABbCcDDEEffGg
D. Monohybrid E. Dihybrid mate, what fraction of the offspring will have the
same genotype as the parents? (These loci are all
independent)
A. 4/3 B. 3/4 C. 1/4 D. 9/64 E. 1/16
4. An animal with the genotype AaBBCc is _____.
A. Homozygous at two loci
B. Heterozygous at two loci
C. Recessive at three loci 10. In a certain animal, the alleles A, B, and C are
completely dominant to the alleles a, b, and c. An
D. Triploid
animal with the genotype AaBbCC will have the
E. All of the above same phenotype as the animal with the genotype
_____.
5. What called one of a pair of genes that controls a A. AAbbcc B. aabbcc C. AaBBcc
particular trait? D. AABBCc E. none of the above
A. Phenotype B. Allele
C. Recessive D. Monohybrid
Genetics Problems
11. If the results of a testcross were 50% phenotypi-
E. Dihybrid cally dominant and 50% phenotypically recessive,
what is the genotype of the phenotypically domi-
nant parent in this cross?
6. What is the observable trait of an organism?
A. heterozygous
A. Phenotype B. Allele B. homozygous dominant
C. Recessive D. Monohybrid C. homozygous recessive
E. Dihybrid D. homozygous dominant and homozygous recessive
E. none of the above
19
GENETICS PROBLEMS
1. In humans, brown eyes (B) are dominant over blue (b). 6. In horses, the color black is due to a dominant allele (B)
A brown-eyed man marries a blue-eyed woman and and chestnut color is due to the recessive allele (b). The
they have three children, two of whom are brown-eyed trotting gait is due to a dominant allele (T) and the pac-
and one of whom is blue-eyed. Draw the Punnett ing gait to the recessive (t). What will be the gametes
square that illustrates this marriage. What is the man's produced by a homozygous black pacer?
genotype? What are the genotypes of the children?
7. In dogs, wire hair (S) is dominant to smooth (s). In a
2. In Guinea pigs, black hair (B) is dominant over white cross of a homozygous wire-haired dog with a smooth-
(b), rough coat texture (R) is dominant over smooth (r), haired dog, what will be the phenotype of the F1 gen-
and short hair (S) is dominant over long hair (s). eration?
Assuming these genes are on separate chromosomes,
draw the Punnett square for a cross between a homozy-
gous black, rough, short-haired Guinea pig and a 8. Woodrats are medium sized rodents with lots of inter-
white, smooth, long-haired one. What would the phe- esting behaviors. You may know of them as packrats.
notype(s) of the offspring be? If two of the F1 offspring Let's assume that the trait of bringing home shiny
objects (H) is controlled by a single locus gene and is
were crossed, draw the Punnett square for this cross.
dominant to the trait of carrying home only dull objects
Hint: First make a list of the possible gametes, making
(h). Suppose two heterozygous individuals are crossed.
sure each has exactly one copy of each of the genes
How many of each genotype would be expected if only
(one allele for each gene). What would the genotype
4 offspring were produced?
and phenotype ratios be for the F2 generation?
9. Saguaro cacti are very tall cylindrical plants that usual-

3. In sweet peas, purple flower color (P) is dominant over ly have two L-shaped arms, one on each side. Suppose
white (p), but there is also a control gene such that if you lived in southern Arizona where the Saguaro cac-
the plant has a "C", the purple has "permission" to tus is common and you happen to have one growing in
express itself. If the plant is "cc," the purple does not your yard. Your Saguaro has two arms but one is longer
"have permission" to express itself and the flower will be than the other. Now, assume that arm length in these
white anyway. If a plant with homozygous purple, con- cacti are controlled by a single gene with arms of the
trolled flowers is crossed with a plant with white, non- same length (A) being dominant to arms of different
controlled flowers, diagram the Punnett square for the lengths. What is the genotype of your cactus?
F1 and F2 generations and calculate the genotype and
phenotype ratios. 10. Suppose you cross your cactus with that of your neigh-
bor which has arms of the same length. Your great
grandchildren (it takes a Saguaro cactus a long time to
4. Kelp, a large, multicellular type of algae, has air blad- mature) find that half of the resulting offspring have
ders in the blades to help them float near the surface arms the same length and half have arms of different
of the ocean where they can get more sunlight. Assume lengths. What was the genotype of your neighbor's cac-
that having many air bladders (M) is a dominant trait. tus?
What gametes would be produced by a heterozygous
individual?
11. The ability to curl your tongue up on the sides (T,
tongue rolling) is dominant to not being able to roll
5. In areas of the very deep and damp southeastern your tongue. A woman who can roll her tongue marries
United States lives what is, for all intents and purposes, a man who cannot. Their first child has his father's phe-
a giant flying cockroach known as a Palmetto bug. notype. What are the genotypes of the mother, father,
GENETICS
Assume that long antennae (L) are dominant to short and child?
antennae and that normal wings (N) are dominant to
bent ones. What gametes will be produced by an indi-
vidual that is homozygous dominant for antennae and 12. If a couple's first child is a boy, what is the probability
heterozygous for wings? that their next child will be a girl?
20
EXTENDING
MENDELIAN
GENETICS
II. EXTENDING MENDELIAN GENETICS
In the 20th century, The relationship between genotype and phenotype is rarely so simple. In this
geneticists have section we will extend Mendelian genetics to hereditary patterns that were not
e x t e n d e d reported by Mendel. Many traits are not inherited by simple Mendelian principles.
Mendelian principles not Geneticists know many examples in which an organism's appearance (its pheno-
only to diverse organisms, type) is the result of complex interactions between genes.
but also to patterns of
inheritance more complex
than Mendel described.
These interactions are;
In fact, Mendel had the
good fortune to choose a Incomplete dominance
system that was relatively Codominance
simple genetically. Each
characteristic (but one) is Multiple alleles
controlled by a single
GENETICS
Epistasis
gene. Each gene has only
two alleles, one of which is Pleiotropy
completely dominant to
the other. Polygenes
22
Incomplete dominance
Incomplete dominance appears when both alleles for the deve-
lopment of some trait have the same level of influence in heterozy-
gous individuals.
That is, heterozygous individuals display an intermediate trait
(Picture–1.2). The terms dominant and recessive cannot be used in
incomplete dominance.
The genotypic and phenotypic ratios are identical. In the se-
cond generation, F2, the phenotypic and genotypic ratios are
1:2:1. Examples of incomplete dominance may be observed in the
snapdragon plant.
In this cross, the degree of dominance of the genes for red and
white flowers are identical. A plant with the Kk genotype has pink
flowers.
The organism’s genotype can be determined by observing its phe- Picture-2
2.1.: Incomplete dominance in sweet pea plants, when
white-flowered and red flowered plants are crossed, the new
notype. Red-flowered plants have the R1R1 genotype, white-flowered offspring will have pink-flowers.
plants, R2R2, and pink-flowered plants have the R1R2 genotype.
Alleles that pro-

duce independent
Extending Mendelian genetics

effects when het-
erozygous. Not every gene
consists of a dominant
allele and a recessive
allele.
The reason is that the sin-
gle red allele in these
plants is unable to code for
the production of enough
red pigment to make the
petals look red. So the phe-
notypic ratio for the mono-
hybrid cross then becomes
1:2:1 instead of 3:1 as
occurs for dominant allele
in Mendelian genetics.
23
Incomplete dominance is seen also in Andalusian
chickens (Figure-2.1). For example, if we cross a black
cock with a white hen. In F1 the generation offspring are
100% Gray because black and white color is incoplate
dominant. So the phenotypic ratio for the monohybrid
cross then becomes 1:2:1 instead of 3:1 as occurs for
dominant allele in Mendelian genetics.
Co-dominance
In co-dominance, neither phenotype is dominant.
Instead, the individual expresses both phenotypes. The
most important example is in human blood types. The
gene for blood types has three alleles: A, B, and i. i causes
O type and is recessive to both A and B. When a person
has both A and B, they have type AB blood. That means
allele A and B are co-dominant to each other.
Another example involves cattle. If a homozygous bull
and homozygous cow mate (one being red and the other
white), then the calves produced will be roan-colored, with
a mix of red and white hairs. (Picture2.2)
Figure-2
2.1.: Incomplete dominance in Andalusian chickens
GENETICS
Picture-2
2.2.: Co-dominance cattles.
24
Multiple Alleles A trait affected by
many genes (that
Up to this point it has been stated that there are two alleles (alleles T1 and T2
is, by polygenes), in
for trait T) for each trait. In living organisms there are sometimes more than two which each individual
alleles governing the inheritance of a trait (alleles T1, T2 and T3 for trait T). This gene makes a small contri-
condition is called multiple alleles, and the process of their inheritance is called bution to the organisms'
heredity with multiple alleles. No more than two of the alleles are found in any phenotype, is known as
one individual. polygenic inheritance. oly-
genic inheritance is an
Example: Alleles B1, B2 additive effect of two or
and B3 govern a particu- more genes on a single
lar trait. How many diffe- phenotypic character (the
rent genotypes can an or- converse of pleiotropy,
ganism have for that tra- where a single gene affects
it? several phenotypic charac-
ters). Human skin color is
Solution: As seen on an example of polygenic
left Alleles B1, B2 and B3 inheritance, as well as
are found in pairs in orga- height, eye color, and sev-
nisms. eral other trait.
Examples of multiple alleles in plants, animals and humans can be seen, such
as fur color of rabbits and human blood types.
Fur color in rabbits

Humans with Tay-
There are series of alleles that control fur color in rabbits. The C allele is for sil- Sachs disease lack
ver color. When the recessive allele c is homozygous it causes albinism. Another a functioning
allele, ch, when homozygous causes white spots on the body. When a fourth alle- enzyme to metabolize gan-
le cch is homozygous, it causes gray spots on the body. (Figure-2.2). gliosides (a lipid) which
accumulate in the brain,
The dominance of the chinchilla gene, which is responsible for the fur color of harming brain cells, and

farmed rabbits, is expressed from left to right as C>cch>ch>c. Many other alle- ultimately leading to
les also don’t exhibit dominance and recessiveness. Heterozygous individuals death. Children with two
combine together the features of both mother and father. Tay-Sachs alleles have the
disease. Heterozygotes
with one working allele
and homozygotes with two
working alleles are “nor-
mal” at the organismal
level, but heterozygotes
produce less functional
enzyme. However, both
the Tay-Sachs and func-
tional alleles produce
Figure-22.2.: Fur color in rab- equal numbers of enzyme
bits. As seen above, the fur co-
lor in rabbits is determined by
molecules, codominant at
four genes. the molecular level.
25
Epistasis
Any gene that masks the expression of another nonallele gene is epistatic to
that gene (Hypostate). Epistasis should not be confused with Dominance.
Epistasis is the interaction between different genes (nonallele). Dominance is the
interaction between different alleles of the same gene.
This Punnett square illustrates the genotypes and phenotypes for offspring of
mating between two black mice. The parents are heterozygous for two genes
(BbCc). Although the two genes affect the same phenotypic character (coat color),
they follow the law of independent assortment (the two genes are inherited sepa-
rately).
Thus our breeding experiment represents an F1 dihybrid cross, like those that
are produced with a 9:3:3:1 ratio in Mendelian genetics. In the case of coat color,
however, the ratio of phenotype among F2 offspring is 9 black to 3 brown to 4
white. So epistatic interactions produce different ratios.
BbCc BbCc
Sperm
1/4 BC 1/4 bC 1/4 Bc 1/4 bc
Eggs
1/4 BC
Epistasis is the BBCC BbCC BBCc BbCc
interaction
between two or
more genes to control a
single phenotype 1/4 bC
BbCC bbCC BbCc bbCc
The interactions of the two
genes which control coat
color was revealed
because we could identify 1/4 Bc
and recognize the 9:3:3:1. BBCc BbCc BBcc Bbcc
Other genetic interactions
were identified because
the results of crossing two
dihybrids produced a mod- 1/4 bc
BbCc bbCc Bbcc bbcc
GENETICS
ified Mendelian ratio. All of

the results are modifica-
tions of the 9:3:3:1 ratio. 9/16 3/16 4/16
Example 9: 3:4 Ratio
26
Pleiotropy
Pleiotropy is the ability of a single gene to have multiple
effects. Sometimes a single gene affects more than one trait
rather than having a single affect. Albinism is an example of
Pleiotropy. In addition to lack of pigment (Melanin) in the skin,
albinism also produces defects of vision. The gene for
albinism affects vision in two ways - by preventing normal eye
pigmentation and producing disorder in the visual pathways
of the brain.
Pleiotropic effects of the Sickle-cell allele: At the molec-
ular level, the recessive allele responsible for sickle-cell dis-
ease has a single direct effect: it causes red blood cells to pro-
duce an abnormal version of the protein hemoglobin. If sick-
le-cell alleles are inherited from both parents, then all the
hemoglobin will be of the abnormal variety. The abnormal
hemoglobin deforms the red blood cells, starting a cascade
of symptoms throughout the body. Thus at the level of whole
organism, the sickle-cell allele has multiple phenotypic
effects.
Polygenic inheritance Proportion of population
20/64
A trait affected by many
genes (that is, by poly-
genes), in which each indi-
vidual gene makes a small
contribution to the organ- Parental (P)
x
generation
isms' phenotype, is known
15/64
as polygenic inheritance. aabbcc
light
AABBCC
dark
Polygenic inheritance is F1 generation

x
an additive effect of two or
AaBbCc AaBbCc
more genes on a single
1/8 1/8
phenotypic character (the F2 generation 1/8 1/8
converse of pleiotropy, 1/8 1/8
Eggs Sperm
where a single gene affects 1/8 1/8
several phenotypic charac- 1/8 1/8
ters). 1/8 1/8
1/8 1/8
Human skin color is an 1/8 1/8 6/64
example of polygenic inher-
itance, as well as height, eye
color, and several other
traits.
1/64
Skin pigmentation
27
THE CHROMOSOMAL BASIS OF INHERITANCE
Chromosomes and Genes and Chromosomes

genes are both
Whether in Mendel’s studies or in further studies, it has been shown that diffe-
present in pairs in
rent traits are passed on to offspring according to the principle of independent as-
diploid cells, homologous
sortment. Cell division hadn’t yet been studied at the time Mendel lived. It has be-
chromosomes separate
en possible to observe cell division under the microscope since the development
and alleles segregate dur-
of the technique of cell staining (1870-1880). Once cell division could be seen, it
ing meiosis and fertilization
was possible to study the characteristics of chromosomes and investigate cell pha-
restores the paired condi-
ses. A relationship between cell science and genetic science was later discovered.
tion for both chromosomes
The contributions made by Walter S.Sutton to help understand this relation sho-
and genes. Around 1902,
uldn’t be forgotten. In the end, the findings of cell science supported the princip-
Walter S. Sutton, Theodor
les of Mendel. Mendel’s principles were better understood and became more mea-
Boveri, and others inde-
ningful. Along with this, it was understood at the beginning of this century that in-
pendently noted these par-
dependent assortment doesn’t always occur .
allels, and a chromosome
theory of inheritance Sutton, observing the behavior of chromosomes in meiosis under the micros-
began to take form. cope and recognizing that they fit the gene behavior assumed by Mendel, conclu-
According to this theory, ded that there is a relationship between genes and chromosomes. Relying on the
Mendelian genes have spe- data he had collected, Sutton proposed this hypothesis: “Genes located on chro-
GENETICS
cific loci on chromosomes mosomes are real physical units. An allele of a gene pair is found on each mem-
that undergo segregation ber of one chromosome pair. These genes, which separate from each other in me-
and independent assort- iosis, pass through to gametes equally.”
ment.
28
The hypothesis proposed by Sutton was later supported
with experimental results on Drosophila by Morgan and
Bridges. So, as the hypothesis proposed by Sutton took ro-
ot, it was called the “gene-chromosome theory”. Accor-
dingly, it can be said that chromosomes are collections of
genes.
Genetic Linkage
In 1903, Sutton, who proposed the chromosome theory
of heredity, demonstrated that the number of an organism’s
chromosomes is smaller than the number of its genes. For
example, in Drosophila there are 4 pairs of chromosomes,
but many more traits are observed in that organism. If the
genes were independent, the numbers of chromosomes wo-
uld be the same as the number of genes. In meiosis, genes
found on chromosomes pass into sex cells in groups. That
is to say, the genes found on the same chromosome show a
tendency to pass together from one generation to the next. Figure-2
2.3: According to independent assortment, this produces 4 phe-
notypes in a 1:1:1:1 ratio.
This distribution doesn’t fit the principles of Mendel.
The presence of more than one gene on a chromosome
and the transfer of these genes together by chromosomes
from one generation to the next is called linkage. The con-
cept of linkage first emerged from research by Beteson and
Punnett (1905-1908) into some traits in potato plants.
Complete understanding of linkage depended especially on
studies on Drosophila done by Morgan and his colleagues.
This situation can be better understood with the following
examples.
The chromosomal basis if inheritance

Consider the first generation from the cross of two ho-
mozygous individuals with DDEE and ddee genotypes. In a
back-cross of F1 hybrids (DdEe) with ddee, the offspring re-
sembling grandmother and grandfather (DdEe, ddee) are
formed in equal amounts with recombinated (Ddee, ddEe)
individuals (the ratios is 1:1:1:1). (Figure-2.3)
As can also be understood from this example, when a
hybrid carries genes whose allele pairs are on separate chro-
mosomes, the variety of gametes formed is in equal ratio to
the degree of hybridization. Consequently, Mendel ratios are
observed in the second generation, F2.
If the F1 hybrid formed from two individuals whose ge-

notypes are DDEE and ddee, is back-crossed with ddee, a
linkage is found between the D and E alleles, and the d and
e alleles. By back hybridization, the expected two phenoty- Figure-2
2.4: Linked genes tend to be inherited together because they are
pes are seen. (Figure-2.4) located on the same chromosome this produces 2 phenotypes in a 1:1
ratio.
29
Linkage in linked genes can be undone by crossing-over. Although
two types of gametes are formed without crossing-over, four types of
gametes are formed with crossing-over. That is, the way how cros-
sing-over increases variety in living things. This can be better seen in
the figure left.
Although there is a linkage of genes K with M, and k with m, this
linkage has been undone by crossing-over and four different gametes
have been formed. When these gametes are fertilized with km game-
tes, the offspring are not similar to their parents (Figure-2.5)
The probability that crossing-over will undo linkage is related to
the distance between the genes located on the same chromosome.
Genes that are close to each other show strong linkage while genes
that are far apart show weaker linkage.
The observed probability of two genes being separated by cros-
sing-over is high when there is a great distance between the two, but
separation is observed more rarely when the genes are close to each
other.
Figure-2
2.5.: Crossing over can separate linked genes so traits
It has been shown by many researchers that in corn, pea plants,
can behave like independent. mice, hens, humans and in many other organisms commonly used in
genetic studies linked genes are undone and recombination occurs as
a result of crossing-over. Because of gene linkage, the ratio of recom-
binations expected by Mendel isn’t observed.
Example: In a cross between organisms with AaBb genotypes,
Biologists now 1021 AABB, 1990 AaBb and 990 aabb genotypes are produced in the
know that offspring. The results can be explained thus:
Mendel's principle
If these genes were independent, the ratio 9:3:3:1 would appear.
of independent assortment
But here, the ratio is 1:2:1 (1AABB:2AaBb:1aabb). This ratio appears
applies only to traits car-
only if there is a linkage between genes.
ried on non homologous
chromosomes. If different
genes are carried on same
pairs of homologous chro-
mosomes they tend to be
inherited together. The
condition in which differ-
ent genes are located on
the same chromosome is
termed LINKAGE. Linked
genes tend to be inherited
together because they are
on the same chromosomes
GENETICS
and tend to remain togeth-

er during meiosis and go
together to the same
gamete.
30
Peutz-Jeghers syndrome Mullerian duct syndrome Some genes on a
Diabetes mellitus Lymphoid leukemia chromosome are
Atherosclerosis so far apart from
Familial hypercholesterolemia each other that crossing-
Mannosidosis over occurs very often.
Familial Hemiplegic Migraine
CADASIL The frequency of recombi-
Immunodeficiensy, HLA (II) nation measured between
Multiple eppihysial dysplasia
Pseudoachondroplasia such genes can have the
maximum value of 50%.
Hemolytic anemia
Central core disease Congenital Nephrotic Syndrome
Malignant hyperthermia
Maple syrup urine disease
Polio susceptibility Hyperlipoproteinemia (IIIb, II)
Xeroderma pigmentosum, D Myotonic dystrophy
Cockaynes syndrome Hypogonadism
DNA ligase I deficiency
Glutaricacidurea, IIB
Chromosome maps
Genetics can use recombination data to map chromosome’s genetic loci. This
information can be used to estimate the relative distances between linked genes.
The farther apart genes are on a chromosome; the more likely they are to be sep-
arated during crossing over. Genetic maps give the order of all relative distances
between all known genes on them.
It isn’t necessary to see genes or to know the structural details of chromoso-
mes to make chromosome maps. By observing the frequency with which genes

change places when chromosomes cross-over, it is possible to calculate the rela-
The human
tive distances between genes on a chromosome. Relative distances between many
genome project:
genes on chromosomes have been listed and chromosome maps have been ma-
de. The chromosomal location of genes with crossing-over values like those be- A great deal of
low can be shown as follows: d—p=3.3%, d—o=17.4% ; p—o=13.9% attention is paid to the
location of genes on chro-
mosomes. An immense
project whose goal is the
mapping of the entire
human genome (the com-
plete genetics material car-
ried by human cell). This
These maps can be made only after hundreds of genetic experiments with project, which hopes to
thousands of generations of offspring. Organisms that have had their chromoso- determine the chromo-
mes mapped include Drosophila, corn, tomato, silkworm, and some microorga- some location and struc-
nisms. The chromosome maps of rabbits, chickens, and mice are also known. To- ture of genes that human
day, studies of human chromosomes have increased. The location of many genes possesses. Why is the
on chromosomes have been determined. These studied have been completed re- genetics mapping so
cently. important?
31
Sex Determination
In most living organisms known today, all different groups, morphologically
and physiologically different from each other. These groups are composed of ma-
le and female individuals. In the sex determination two main factors have role.
Environmental factors (Phenotypic)
Genotypes
Environmental factors (Phenotypic)

In some lower animals sex determination is non-genetic that depend on factors
in the environment. Male and females have similar genotypes but stimuli from
environmental sources initiate development toward one sex or the other. Two fe-
atures are important for sexual determination: phenotype and genotype.
In some organisms the sex of individuals is determined by several factors. The
sex of a seaworm (Bonellia viridis) is determined by some circumstances after it
hatches. If the new hatchling can attach to the trunk of its mother or another sea
worm, it becomes male, if not it becomes a large-trunked female like its mother.
Here, sex determination of the young depends on a substance (hormone) in the
trunk (Figure-2.6).
Phenotypic sex determination is also observed in some plants. If the bulb-sha-
pes roots of Arisaema japonica are big (because of extra reserves), that plant forms
only female flowers. If surplus nutrients are in small amounts, the plant forms only
male flowers. Some factors such as temperature and day length also effect sex de-
termination in plants.
Figure-2
2.6.: Bonellia viridis Genotypes
Genotypic sex determination is controlled by the genetic structure of the orga-
nism. Male and female individuals are formed in equal ratios by this mechanism.
In this event, genes that convey male or female traits play a role. The chromo-
somes that carry the genes that have a role in sex determination are called sex
chromosomes or gonosomes (XX, XY chromosomes).
In every cell of all organisms, the chromosomes (not including the sex chro-
mosomes) carrying genes for the formation of somatic traits are called autoso-
In some lower mes. In diploid organisms, every autosome is found in a homologous pair.
animals sex determi-
Sex chromosomes are found in either homologous XX, or non-homologous XY
nation is non-genetic
condition (some genes located on these chromosomes are homologous in terms
that depend on factors in the
of the traits they produce).
environment. Male and
females have similar geno-
GENETICS
types but stimuli from envi-

ronmental sources initiate
development toward one sex
or the other.
32
Some chromosomal system of
sex determination
XX-XY mechanism: In organisms with this
mechanism, individuals with XX chromosomes
are females, XY chromosomes are males.
Examples are humans and Drosophila.
ZZ-ZW mechanism: This is observed in but-
terflies, reptiles, some fish and birds. In these
animals, in contrast with humans, individuals
carrying ZZ chromosomes are males, individu-
als carrying ZW chromosomes are females (Fi-
gure-2.7)
XX-X0 mechanism: In this mechanism, obser-
ved in insects, females carry XX, while males
carry X chromosome. For example, in grass-
hoppers the male has 21 chromosomes and
the female has 22 chromosomes. While fema-
les form one type of egg (10+X chromoso-
mes), males form two types of sperm with eit-
her 10+X or 10+0 chromosomes. Because of
this, eggs fertilised with sperm having 10+0
chromosomes produce male grasshoppers,
and those fertilised with sperm having 10+x
chromosomes produce female grasshoppers.
Haploid-Diploid Mechanism: In some social
insects such as the honeybee and wasp, sex de-
termination is related to chromosome number,

haploid (n) or diploid (2n). While the honeybe-
es with haploid chromosomes (16) are male,
the honeybees with diploid chromosomes (32)
Figure-2
2.7.: Sex determination in some or-
are worker or queen bees.
ganisms and the responsible genes for sex
determination.
Secondary sex characteristics
In living things, male and female reproductive organs are called primary sex or-
gans. In addition to the primary sex organs, there are secondary sex characteris-
tics. Secondary sex characteristics are all of the features that indicate the sex of an
organism as male or female (activation of milk glands, deepening of voice, beard, Some genes on a
mustache, etc.). chromosome are
so far apart from
Reproductive hormones secreted by sex organs in vertebrate animals determi-
each other that crossing-
ne secondary characteristics. For example, in experiments with poultry, when the
over occurs very often.
ovaries are removed from the female at an early stage, hair and quill feathers like
The frequency of recombi-
those of the male begin to grow, and even the appearance of testes is observed.
nation measured between
Also in humans, hormones secreted by the ovaries and testes cause the growth of
such genes can have the
the secondary sex characteristics.
maximum value of 50%.
33
THE MOLECULAR BASIS OF INHERITANCE
The basic plan of all living things (except for certain viruses which have RNA as
genetic material) is stored in their DNA.
DNA is an antiparallel double helix; each strand consists of nucleotides joined
Biologists have to the other by hydrogen bonds between complementary bases. There are four
identified about 2 base Adenine, Thymine, Guanine, and Cytosine.
million species of The base pairing is specific adenine always pairs with thymine and guanine
living organisms. All organ- always pairs with cytosine. The two strands of a DNA double helix are thus com-
isms share a common plementary so given the base sequence of one strand that of the other can be pre-
chemical language for dicted.
their genetics material,
DNA. In 2003, scientist DNA replicates itself by semi conservative replication in which each double
GENETICS
announced a rough draft helix contains an old and a newly synthesized strand. DNA is packaged into chro-
for the sequence of all 3 mosomes in a highly organized way. DNA associate with proteins called histones
billion letters in the human to form nucleosomes, the structural unit of chromosome.
DNA.
34
The connection of gene and protein
(from gene to protein)

The information content of DNA, the genetic material, is
in the form of specific sequences of nucleotides along the
DNA strands. But how is this information related to an
organism in inherited traits? Let's put another way, what
does a gene actually say? And how is its message translat-
ed by cells into a specific trait, such as blood type A, blue
eyes, brown hair, and etc.
The gene is the fundamental unit of hereditary. A gene
determines a particular trait. At the molecular level, a gene
is a particular segment of DNA molecule that codes for a
cellular product usually polypeptide. In the cells DNA con-
tain the information needed to make all of the proteins that
the cells use. Eye color, hair color, such traits are visible
because of protein synthesis. At the same time other
aspects of body structure and function more difficult to
observe directly are also under the control of genes. The
messages in an organisms' genes control everything about
it by governing its production of protein.
DNA does not control protein synthesis directly. It uses
RNA. The flow of genetic information from DNA to RNA to
protein is called central dogma. RNA is a nucleic acid
made up of a single chain of nucleotides (differs from DNA
having Ribose sugar and Uracil base)
There are 3 types of RNA
The molecular basis of inheritance

mRNA carries the information from DNA to ribosome.
tRNA carries amino acid to the ribosome during protein
synthesis. They are found cytoplasm of cells.
rRNA participates in the structure of ribosome.
Transcription and translation are two main processes
linking gene to protein.
Transcription: The passing of genetic information from
DNA to RNA
Translation: The process of translating a message from
one language (nucleic acid language-sequence of
nucleotides) to another language(protein language-
sequence of amino acids) nucleotide triplets specify amino
acids.
35
There are only 4 nucleotides in DNA to specify 20 amino acids. So genetic
To get from DNA,
code can not be a language like Chinese, where each written symbol corresponds
written in one
to a single word. If each nucleotide base were translated into an amino acid, only
chemical language,
4 of the 20 amino acid could be specified. Would a language with a two-letter code
to protein, written in
words suffice?
another, requires two
major stages, transcription The base sequence AG, for example, could code one amino acid, and GT code
and translation.
another. Since there are 4-bases, this would give us 16 (that is 42) possible
arrangements- still not enough to code for all amino acids.
The genetic instructions for a polypeptide chain are written in the DNA as a
series of 3-nucleotide words are called triplet code (43 =64 possible codes
enough to code all amino acids) for example the base triplet AGT (in the mRNA
base triplet is UCA) codes serine amino acid. The mRNA base triplets are called
codon, for example, UGG is the codon for amino acid tryptophan.
In DNA or RNA,
the four nucleotide
monomers act like
the letters of the alphabet
to communicate informa-
tion. The specific sequence
of hundreds or thousands
of nucleotides in each
gene carries the informa-
GENETICS
tion for the primary struc-

ture of a protein, the linear
order of the 20 possible
amino acids.
36
Gene regulation in prokaryotes Each stage in the
entire process of
Gene regulation in prokaryotes primarily involves control of transcription. Cells
gene expression
control metabolism by regulating enzyme activity or by regulating enzyme synthe-
provides a potential con-
sis through activation or inactivating genes. In bacteria, regulated genes are often
trol point where gene
clustered into operons. In 1965, a Nobel Prize was awarded to 3 biochemists F.
expression can be turned
Jacob, J. Monod, and A. Lwoff. They explained how genes control enzymes.
on or off, speeded up or
Operons: They are the units of gene expression in prokaryotes, which consist slowed down. A web of
of 3-parts. They are promoter, operator and structural genes. Regulator gene is control connects different
out side of operon. The operator is the on-off switch of an Operon. genes and their products.
These levels of control
Regulator gene: A gene that codes for a protein, (repressor) which controls include chromatin pack-
the expression of another gene. This gene codes for the production of a protein ing, transcription, RNA
that can bind to the operator. When this repressor binds to an operator, it prevents processing, translation,
RNA polymerase from binding to the promoter region of the Operon. So repres- and various alterations to
sor prevents the expression of structural genes. the protein product.
Repressor: The protein coded by regulatory gene. Repressor can bind to the
operator.
Corepressor: A small molecule that cooperates with a repressor to switch an
operon off.
Promoter: The part of the operon where RNA polymerase binds to begin tran-
scription of the structural genes. The structural gene and operon all share a sin-
gle promoter site when RNA polymerase binds to this site, it transcripts all of the
structural genes onto one mRNA strand, which may go on to be translated into
the individual proteins (enzymes)
Operator: The part of DNA that controls expression of structural genes. It acts
as a control switch on or off by allowing or preventing of RNA polymerase enzyme The major compo-
on the promoter. nent of the bacteri-
al genome is one

Structural genes: The part of DNA that codes synthesis of a group of enzyme double-stranded, circular
that are involved in the same function.(for example the digestion of lactose) DNA molecule. For E. coli,
the chromosomal DNA
Two type of operon:
consists of about 4.6 mil-
lion nucleotide pairs with
The Lactose-operon (Inducible system) about 4,300 genes. This is
The lactose operon is activated by the presence of Lactose. It controls the pro- 100 times more DNA than
duction of enzymes, which digest lactose. It is regulated by synthesis of inducible in a typical virus and 1,000
enzyme. Lactose (allolactose which is isomer of lactose) is an inducer. times less than in a typical
eukaryote cell. Tight coil-
An inducible operon is normally turned off because the repressor is normally ing of the DNA results in a
bound to the operator. The presence of substrate (lactose) inactivates the repres- dense region of DNA,
sor protein (lactose binds repressor and inactivates) As a result, the repressor pro- called the nucleoid, not
tein cannot bind to the operator, and the structural genes are transcribed. bounded by a membrane.
In addition, many bacteria
have plasmids, much
smaller circles of DNA.
37
GENETICS
38
The tryptophan operon (Repressible system)
The tryptophan operon is activated by the absence of tryptophan. The trypto-
phan operon includes 5-structural genes that code for the 5-enzymes needed to
produce tryptophan amino acid. The tryptophan operon is regulated by synthesis
of repressible enzymes.
The repressor protein is synthesized in an inactive form that can not bind to the
operator. The presence of end product (that is tryptophan) of a biosynthesis binds
to the inactive repressor and activates it. As a result RNA polymerase can no
longer bind to the promoter, and transcription of the genes cannot be occurred.
39
Like unicellular Gene regulation in eukaryotes
organisms, the tens
A typical eukaryotic cell, such as human liver cell contains more than 1000
of thousands of
times more amount of DNA found in an E.coli. So gene regulation mechanism is
genes in the cells of multi-
more complex than prokaryotes. Their DNA is in the form of chromosome, which
cellular eukaryotes are
affects the regulation. The signal, which has first effect, can be a hormone (ren-
continually turned on and
nin, thyroxin, adrenaline etc.) or a neurotransmitter (acetylcholine, dopamine,
off in response to signals
serotonin etc). Gene regulation in eukaryotes occurs at the level of
from their internal and
external environments. Transcription: by turning genes ON and OFF. Histones play an essential role.
Gene expression must be mRNA processing: gene regulation can occur as a result of mRNA process-
controlled on a long-term ing in which introns ( noncoding segment) removed and exon (coding segment)
basis during cellular differ- are bound together.
entiation, the divergence
in form and function as Translation: eukaryotes also regulate gene expression at the level of translation
cells specialize. by regulating the stability of mRNA. When mRNA is more stable, more polypep-
tites can be formed per mRNA molecule.
Post-translational processing: gene regulation can occur after proteins have
been synthesized and feed back inhibition.
Problems with
gene expression
and control can
lead to imbalance and dis-
eases, including cancers.
In eukaryotes,
most of the DNA
(about 97% in
humans) does not code for
protein or RNA. Some
noncoding regions are
regulatory sequences. Other
GENETICS
are introns. Finally, even

more of it consists of
repetitive DNA, present in
many copies in the genome.
40
41
1. You cross a true-breeding white-flowered snap- 5. What called a condition in which one gene pair
dragon with a true-breeding red-flowered one. will interact to control the expression of a second
All of the F1 are pink. What does this say about gene pair (for example, coat color in Labrador
the alleles for the parental traits? retrievers)?
A. White is dominant. A. Incompletely dominant
B. Red is recessive. B. Completely dominant
C. Pink is dominant C. Pleiotropic
D. Red and white are incomplete dominant. D. Epistatic
E. Red and white are co-dominant. E. Co-dominant
2. Flower color in snapdragons is an example of 6. Humans are diploid and have 46 chromosomes
incomplete dominance. If a red-flowered plant is (or two sets). How many sets of chromosomes are
crossed with a white-flowered plant, the F1 gen- found in each human gamete?
eration has pink flowers. If a red-flowered plant
A. 1 B. 2 C. 3 D. 4 E. 5
is crossed with a pink-flowered plant, what is the
progeny of the offspring?
A. 50% pink and 50% red
B. 25% white and 75% red
7. Four genes (X, Y, Z, and W) are on the same chro-
C. 100% pink mosome. The crossover frequencies below are
D. 100% red obtained. Which is the correct sequence of genes?
E. 25% red, 50% pink, and 25% white X-Y 29% Y-Z 24%
X-Z 15% Y-W 12%
X-W 31% Z-W 26%
3. What called a condition in which a single genetic

A. XYZW B. XYWZ C. XZYW
locus that controls more than one trait?
D. XZWY E. XWYZ
A. Autotrophic
B. Somatic
C. Polygenic
D. Photogenic 8. If a couple's first child is a girl, what is the proba-
E. Pleiotropic bility that their next child will be a boy?
A. 0% B. 25% C. 33% D. 50% E. 100%
4. A red bull is crossed with a white cow and all of
the offspring are roan, a shade between red and
white. How can you explain these genes?
A. Incompletely dominant 9. Which of the following is the subunit of eukaryot-
GENETICS
ic chromosome?
B. Completely dominant
C. Pleiotropic A.Nucleotide B.Nucleoside C.Nucleosome
D. Epistatic D.Nucleoide E.Protein
E. Co-dominant
42
GENETICS PROBLEMS
1. In northeast Kansas there is a creature know as a wild- 5. Racoons have rings around their tails and a habit of
cat. It comes in three colors, blue, red, and purple. This washing their food in water before eating it. Suppose
trait is controlled by a single locus gene with incom- that both of these traits are controlled via incomplete
plete dominance. A homozygous (BB) individual is blue, dominance so that wide bands on the tail are BB, medi-
a homozygous (bb) individual is red, and a heterozy- um sized bands are Bb, and narrow bands are bb and
gous (Bb) individual is purple. What would be the geno- that washing all their food is WW, washing some of
types and phenotypes of the offspring if a blue wildcat their food is Ww, and washing no food is ww. How
were crossed with a red one? many of each genotype will be in the F1 generation
resulting from a cross of two racoons, both with medi-
um sized tail bands and that wash some of their food
2. The lubber grasshopper is a very large grasshopper, (assume 16)?
and is black with red and yellow stripes. Assume that
red stripes are expressed from the homozygous RR
genotype, yellow stripes from the homozygous rr geno-
type, and both from the heterozygous genotype. What
will be the phenotypic ratio of the F1 generation result-
6. Snow leopards live in the high reaches of the
ing from a cross of two grasshoppers, both with red and
Himalayas and have several adaptations to deal with
yellow stripes (red : both : yellow)?
living most of the time in snow. They have wide paws
with hair between the toes to allow them to run on top
of the snow crust. Assume that wide paws (W) and hair
3. Suppose you have two rose plants, both with pink flow- between the toes (T) are both dominant traits and are
ers. You cross the two plants and are surprised to find on the same chromosome. Suppose that two snow
that, while most of the offspring are pink, some are red leopards, heterozygous for both traits, mate. Suppose
and some are white. You decide that you like the red further that in the female, the two dominant alleles are
flowers and would like to make more. What cross on the same chromosome of the homologous pair,
would you perform to produce the most red flowered while in the male, each chromosome of the pair has
plants? one dominant and one recessive allele. What percent-
age of each of the following genotypes will be pro-
duced?
4. A group of spiders known as orb weavers often con-
struct patterns with threads visible in the ultraviolet
spectrum into the centers of their webs. These patterns
mimic the centers of flowers and provide a lure for
unwary flying insects that can see in the ultraviolet
range. Suppose that in a particular species of orb 7. Suppose you have a bunch of white mice, some that
weavers, the gene controlling the type of pattern are only white and some with black spots. There are
placed in the center of the web is linked to a gene con- also some of your mice with black eyes and some with
trolling whether the spider has green spots. In this case, pink eyes. Assume that the genes for hair color and eye
color are linked and that plain white (W) is dominant to
Genetics Problems
the allele for a solid circle (P) of UV pattern is dominant
to the allele for concentric rings forming a target pat- black spots and that black eyes (B) are dominant to
tern and the allele for green spots (G) is dominant to no pink. You decide to cross a female that is homozygous
spots. Suppose a female heterozygous for both traits dominant for hair color (you just happen to know the
and with the dominant alleles of the two traits on one genotype of each mouse) and heterozygous for eye
homologous chromosome and the recessive alleles on color with a male that is heterozygous for both traits. In
the other homolog mates with a male that is homozy- the male, each homologous chromosome contains a
gous recessive for pattern type and heterozygous for dominant and recessive allele from the two genes.
spots. How many of each phenotype will be found in What genotypic ratio do you expect in the F1 genera-
the F1 generation (assume 4 offspring)? tion (assume 16 pups)?
43
8. A farmer who wants to get into the milk business has 11. In the garden pea plant, yellow seeds (Y) are dominant
bought a small beginning herd of 12 cows all of which to green seeds (y), and smooth seeds (S) are dominant
produce high quantities of milk (M, dominant over low to wrinkled seeds (s). When a YySs individual is crossed
quantities) and have high fertility (F, also dominant over with a yyss individual, offspring are produced. The
low fertility). However, she knows that all of her cows observed distribution of offspring was: yellow-smooth
are heterozygous for both these traits and that the 2140; yellow-wrinkled 357; green-smooth 360; green-
genes are linked. In her cows, one homolog of the pair wrinkled 2144. Based on these data,
contains the dominant alleles for each trait and one
A. What is the recombination frequency?
contains the recessive allele of each of the traits. Two of
the farmer's nearby neighbors own bulls that are also B. How many map units are there between s and y
heterozygous for these traits. The first neighbor's bull genes?
has the same alleles linked as her cows but the second
neighbor's bull has one dominant and one recessive
allele from each trait on each homolog. Baring in mind
that the farmer would like to obtain the maximum
number of calves with high milk production and high
fertility, which of the two available bulls should she
choose to introduce her cows to?
12. Suppose that the difference between 10 cm high maize

and 26 cm high maize is due to four pairs of additive
genes. The individuals with 10 cm have the aabbccdd
genotype and the 26 cm - AABBCCDD.
A. Determine the phenotype of F1 if it is known that the
9. Morgan crossed Drosophila of two known genotypes, parental plants are 10 cm and 26 cm of high.
BbVv x bbvv, where B, the wild-type (grey) body, is dom-
inant over b (black body) and V (wild-type wing) is dom- B. How many phenotypes classes would be in F2?
inant over v (vestigial, a very small wing). Morgan
expected to see four phenotypes in a ratio 1:1:1:1. But C. What fraction of the total number of plants in F2 will
he observed: Wild type:965, Black vestigial: 944, Grey be 18 cm high?
vestigial: 206, Black normal: 185 These results were
explained in assuming linkage of alleles together with
genetic recombination (crossing over).
A. Find the recombination frequency
B. Find the map distance as cent Morgan
13. The weight of a certain variety of squash is determined

by three pair of genes: AABBCC produces fruit weight-
ing 6 pounds, while aabbcc produces 3 pound fruit.
10. Assume that feather color in the great horned owl is Each gene represented by a capital letter adds 1/2
linked with the length of their feathered ear tufts. Also pound to the weight of the fruit. When a plant produc-
assume that dark feathers (D) are dominant to pale ing 6 pound fruit is crossed with a plant producing 3
feathers and long ear tufts (L) are dominant to short. pound fruit, all of the offspring produce 4 1/2 pound
GENETICS
Two owls that are heterozygous for both traits are fruit. Give the weights of the fruit and proportions of
mated. The male's parents had genotypes of DDll and each for the offspring resulting from a cross between
ddLL while the female's parents had genotypes of DDLL two of the 4 1/2 pounds producing plants derived from
and ddll. Which alleles are linked in the male and the previous cross.
female?
44
CHANGES IN
GENETIC MATERIAL
III. CHANGES IN GENETIC MATERIAL
Changes in DNA
caused by muta-
tion can cause
errors in protein sequence,
creating partially or com-
pletely non-functional pro-
teins. To function correctly,
each cell depends on thou-
sands of proteins to func-
tion in the right places at
the right times. When a
mutation alters a protein
that plays a critical role in
the body, a medical condi-
tion can result. A condition
caused by mutations in
one or more genes is
called a genetic disorder.
The genetic material in eukaryotic cells is enclosed in a nucleus. Ad-

ditionally, genetic material is found in some of the organelles (mitochon-
dria, chloroplast) of eukaryotic cells and in the cytoplasm of prokaryotic
cells.
The genetic material is especially found in the nucleus, the DNA mo-
lecule’s double strand is linked by hydrogen bonds and covered by pro-
tein. In addition to this, it’s protected by the nuclear membrane. Altho-
ugh the genetic material is well protected, its structure may be damaged
by internal or external factors.
Changes in the structure of genetic material are called mutations.
Here are the types of mutations:
Chromosomal Mutations
In previous sections we learned that genes are swapped between the
chromatids of homologous chromosomes in a process called crossing
over. Crossing over leads to diversity (genetic recombination) and struc-
tural changes in chromosomes.
GENETICS
It’s important to emphasize that crossing over is not a type of muta-

tion. Sometimes as a result of different factors (mutagens) there may be
swapping, deletion, addition or reverse connection of chromosome pie-
ces without crossing over.
46
Structural Changes in Chromosomes
This type of mutation causes changes in the original structure of chromoso-
mes. Such changes occur by breaking off, adding or reverse reconnection of a pi-
ece of chromosome by 180°.
Changes in genetic material
47
Mutations are Changes in the number of chromosomes
changes to the In mitosis or meiosis, new cells with different numbers of chromosomes may
genetic material be formed. Consequently, the order and sequence of most of the genes change,
(usually DNA or RNA). which brings genetic problems by itself. Such changes can be studied under two
Mutations can be caused topics: euploidy and aneuploidy. (Picture-3.1)
by copying errors in the
genetic material during
cell division and by expo-
sure to radiation, chemi-
cals (mutagens), or viruses,
or can occur deliberately
under cellular control dur-
ing processes such as
meiosis.
If a mutation pres-
ents in a germ cell,
this can give rise to
offspring that carries
mutation in all of its cells.
This is the case in heredi-
tary diseases. On the other
hand, a mutation can
a. Euploidy
occur in a somatic cell of
an organism. Such muta- Euploidy is a change in the total number of chromosomes to the haploid con-
tions will be present in all dition, or some whole number multiple of the usual number (3n, 4n, 5n, …). Ha-
descendants of this cell, ving n chromosomes in ones body cells is called monoploidy, and such individu-
and certain mutations can als are called monoploids.
cause the cell to become If the chromosome number is some multiple of n it is called polyploidy and in-
malignant, and thus cause dividuals are polyploids. Polyploids are named according to the coefficient of n (3n
cancer. = triploid; 4n = tetraploid; …)
Monoploids: Monoploids are formed by parthenogenesis of unfertilized egg.

The best known example in the animal kingdom is the honey bee. Monop-
loidy is often seen in plants. Monoploids look like diploid individuals but are
smaller in size.
Polyploids : Polyploids are formed by the fusion of a diploid gamete which
did not undergo meiosis with a similar diploid gamete or with a normal (n)
GENETICS
gamete. Another cause of polyploidy is when all the chromosomes stay in

Picture-3
3.1.: Down syndrome is a kind of one cell during mitotic division of the zygote because cytokinesis does not
genetic diseases caused by nondisjunction. take place. Both processes can be caused either by external factors or expe-
They have 47 chromosomes with 45+XX or rimentally.
XY karyotype.
48
Recently a chemical substance called colchicin has been used for this
purpose. This chemical inhibits the activity of spindle fibers and delays the
splitting of centromeres.
Thus newly separated sister chromatids can not move to opposite poles
and stay in the same cell. Eventually polyploidy is formed. Big apples are
triploid (2n=3x=3*17=51); diploid apples have 2n=34 chromosomes.
Triploids are richer in vitamin C and are more resistant to winter weather.
A cross between a tetraploid plant and a diploid hybrid individual of the
same species gives a triploid plant.
If a triploid plant is not artificially turned into a hexaploid and made poly-
ploidy, it will be infertile and can not produce seeds (seedless grapes and
watermelons).
There are many known spontaneously occurring polyploidy plants. For
example, nightshade grapes have n, 2n, 3n, 4n chromosome (n=36, smal-
lest; 4n= 4*36=144 biggest) forms. In the same way, potato and tobacco
plants have diploid and tetraploid forms. In the animal kingdom polyploidy
is very rare.
Normal and polyploid pea. As shown, polyploid peas produce more se-
eds than normal peas. (Figure-3.1)
b. Aneuploidy
Aneuploidy occurs when one or several chromosomes in one set of
chromosomes change. If one chromosome is missing in a diploid individu-
al (2n-1) it is called monosomy. If a homologous chromosome pair is mis-
sing or excessive it’s called polysomy.
Types of mutations related to chromosome number seen in a cell with
2n=18 chromosomes.
Figure-3
3.1.: Polyploidy Normal and polyploid pea.
As shown, polyploid peas produce more seeds than
normal peas.

Mostly polyploids
arise due to colchi-
cine. This substan-
ce prevents the formation
of spindle fibers and centri-
oles and causes polyploidy.
49
Often, gene muta- Gene Mutations (Point Mutations)
tions that could
Gene mutations, or point mutations, do not cause any change in the structu-
cause a genetic dis-
re of the chromosome and can not be observed microscopically.
order are repaired by the
DNA repair system of the They occur in the structure of DNA during replication, formed abnormal genes
cell. Each cell has a num- results in abnormal protein and enzymes.
ber of pathways through Just as mutations occur naturally, they can also be caused artificially in the la-
which enzymes recognize boratory. Factors causing mutations are called “mutagens”. Mutagens comprise
and repair mistakes in many physical and chemical factors.
DNA. Because DNA can
be damaged or mutated in
many ways, the process of Here are some important mutagens:
DNA repair is an important Temperature: High temperature (45° and above) causes mutations.
way in which the body pro-
tects itself from disease. Radiation with high energy: X-rays, ultraviolet rays. This high-energy ra-
diation, emitted from radioactive elements, hits molecules, causing vari-
ous changes.
Chemical Compounds: Nitric acid (HNO3), 5 brom uracil, and some
certain antibiotics.
pH level: The pH level of the medium affects the mutation rate.
Changing of AT/GC Ratio

Normally two purine bases and two pyrimidine bases do not pair with each ot-
her. Sometimes, either spontaneously or by mutation, such pairs can be formed.
As seen in the diagram below one A-T base pair changes with one G-C pair. Nor-
mally the A-T/G-C ratio is 2/2 but as a result of point mutation it’s now 1/3.
Structural alter-
ations of chromo-
somes can also
cause human disorders.
Deletions, even in a het-
erozygous state, cause
severe physical and mental
problems. One syndrome,
cri du chat, results from a
specific deletion in chro- Change in the order of nucleotide sequence
mosome 5. These individu-
Either spontaneously or by mutation, there might be a change in the order of
als are mentally retarded,
the nucleotide sequence, but not in the number.
have a small head with
unusual facial features, and a) ratio: AT / GC=3/2
a cry like the mewing of a
GENETICS
distressed cat. This syn-

drome is fatal in infancy or
early childhood. b) ratio: AT / GC=3/2
50
Reduction of Nucleotides Point mutations,
Under the influence of some mutagens, the structure of DNA can be broken often caused by
down. A missing part in only one strand of DNA is not very important. This mis- chemicals or mal-
sing part can be copied from other strands. But a break in the same region of both function of DNA replica-
strands is irretrievable. tion, exchange a single
nucleotide for another.
Because the information coded in that region of DNA is lost, there may be so- Most common is the transi-
me effect in the phenotype (if new code still codes for the same amino acid, noth- tion that exchanges a
ig changes). purine for a purine (A ? G)
Gene mutations can occur in both body cells and sex cells. Mutations in body or a pyrimidine for a
cells will not be passed on to the next generation. However, mutations in sex cells pyrimidine, (C ? T). A tran-
will be passed on to offspring and effect future generations of that organism. sition can be caused by
nitrous acid, base mispair-
By mutation, a dominant gene can turn recessive, and a recessive gene can ing, or mutagenic base
turn back into a dominant gene as well. Dominant mutations can be observed in analogs such as 5-bromo-
all generations. Polydactyly, brachydactyly, partial albinism, and short legs in chic- 2-deoxyuridine (BrdU).
ken are some examples. These dominant mutations are lethal in the homozygous
state, so individuals with these characteristics are heterozygous. There are many
examples of recessive mutations evident when the mutated genes are homozygo-
us. Total albinism, deaf and dumbness, xeroderma, pigmentosum (which makes
some areas of the skin sensitive to light), hemophilia, dwarfism and albinism in
plants and in mice, and vestigial wings and black body color in fruit flies are some
examples of recessive mutations.

Errors during me-
iosis can change
chromosome num-
ber per cell or the structu-
re of an individual chromo-
some. Such alternations
can affect phenotype. Ide-
ally, the meiotic spindle fi-
bers distribute chromoso-
mes to daughter cells wit-
hout error. But there is an
occasional error, called
nondisjunction.
51
Nondisjunction is Nondisjuntcion
the error in which
As explained before, living organisms have two types of chromosomes: auto-
the members of a
somes and sex chromosomes ( gonosomes) . Nondisjunction is seen in these two
pair of homologous chro-
chromosomes. Nondisjunction occurs during cell division (especially meiosis). If
mosomes do not move
nondisjunction occurs, the new cells formed by cell division won’t have the normal
apart properly during
number of chromosomes.
meiosis-1 or in which sister
chromatids fail to separate In the metaphase stage of meiosis, homologous chromosomes line up at the
during meiosis-2. In these equator of the cell. In anaphase they are pulled to the opposite poles of the cell.
cases one gamete receives Finally chromosomes separate equally into daughter cells. In nondisjunction, the
two of the same chromo- homologous chromosomes lined up at the equator in metaphase accumulate at
somes and another gamete one pole during the anaphase stage of cell division. As a consequence some of
receives no copy. the daughter cells have more and some have less than the normal number of
chromosomes. Nondisjunction happens this way.
Nondisjunction may take
place in autosomes or in
sex chromosomes.
Nondisjunction in fruit flies
A fruit fly has 8 chromosomes (6 + XX, 6 + XY)
Alternations of chromo-
some number cause some XX = female; XY = male; XXY = female; X = male; Y dies
genetics disorders, such as
Let’s explain nondisjunction in fruit flies with an example. Normal fruit flies ha-
aneuploidy and polyploidy.
ve red eyes. Some fruit flies have white eyes. White-eyed female fruit flies are cros-
sed with red-eyed male fruit flies. In the first cross, as you see, red-eyed females
and white-eyed males are produced. Among those same fruit flies some red-eyed
males and white-eyed females were later seen. However such an outcome is im-
possible. When the chromosomes of those individuals were counted it was seen
that females had 9 and males had 7 chromosomes.(Figure-3.2)
GENETICS
Figure-3
3.2.: There are traits carried on sex chromosomes in fruit flies
as well. Eye color is one of these. It is carried on the X chromosome.
Red eye color is dominant to white eye color. As result of nondisjunc-
tion, male and female fruit flies are produced with abnormal chromo-
some number. The individuals with Y chromosome die.
52
cells, both normal metabolic activities and environmental factors
such as UV light can cause DNA damage, resulting in as many as
1 million individual molecular lesions per cell per day[1]. Many
of these lesions cause structural damage to the DNA molecule
DNA DAMAGE AND REPAIR and can alter or eliminate the cell's ability to transcribe the gene
that the affected DNA encodes. Other lesions induce potentially
DNA DAMAGE harmful mutations in the cell's genome, which will affect the sur-
DNA damage, due to environmental factors and normal metabolic vival of its daughter cells after it undergoes mitosis.
processes inside the cell, occurs at a rate of 1,000 to Consequently, the DNA repair process must be constantly active
1,000,000 molecular lesions per cell per day[1]. While this con- so it can respond rapidly to any damage in the DNA structure.
stitutes only 0.000165% of the human genome's approximately
6 billion bases (3 billion base pairs), unrepaired lesions in crit-
ical genes (such as tumor suppressor genes) can impede a cell's
ability to carry out its function and appreciably increase the like-
lihood of tumor formation.
The vast majority of DNA damage affects the primary structure
of the double helix; that is, the bases themselves are chemically
modified. These modifications can in turn disrupt the molecules'
regular helical structure by introducing non-native chemical
bonds or bulky adducts that do not fit in the standard double
helix. Unlike proteins and RNA, DNA usually lacks secondary
structure and therefore damage or disturbance does not occur at
that level. DNA is, however, supercoiled and wound around "pack-
aging" proteins called histones, and both superstructures are vul-
nerable to the effects of DNA damage. Sources of damage DNA
damage can be subdivided into two main types:
1. Endogenous damage such as attack by reactive oxygen species
The rate of DNA repair is dependent on many factors, including

produced from normal metabolic byproducts (spontaneous muta-
the cell type, the age of the cell, and the extracellular environ-
tion), especially the process of oxidative phosphorylation;
ment. A cell that has accumulated a large amount of DNA dam-
2. Exogenous damage caused by external agents such as age, or one that no longer effectively repairs damage incurred by
Ultraviolet [UV 200-300nm] radiation including X-rays and its DNA, can enter one of three possible states: an irreversible
gamma rays, hydrolysis or thermal disruption, certain plant tox- state of dormancy, known as senescence cell suicide, also known
ins and human-made mutagenic chemicals, especially aromatic as apoptosis or programmed cell death unregulated cell division,
compounds that act as DNA intercalating agents which can lead to the formation of a tumor that is cancerous The
DNA REPAIR DNA repair ability of a cell is vital to the integrity of its genome
and thus to its normal functioning and that of the organism. Many
DNA repair is the process by which a cell identifies and corrects genes that were initially shown to influence lifespan have turned
damage to the DNA molecules that encode its genome. In human out to be involved in DNA damage repair and protection.
53
1. Which of the following is correct with regard to 6. Cells that have one set of chromosomes are
aneuploidy? termed___________.
A. It can be represented by 3n. A. aneuploid B. diploid
B. It can be represented by 2n + 2. C. polyploid D. nanoploid
C. It's another name for duplication. E. trisomy
D. It can be represented by 2n + 1.
E. All aneuploid individuals die before birth.
7. Which of these terms applies to an organism with
2n-1 chromosomes?
A. Aneuploidy
2. What called if a fragment of a chromosome
B. Polyploid
breaks off and then reattaches to the original
chromosome at the same place but in the reverse C. Diploid
direction? D. Monosomy
A. Translocation E. Haploid
B. Point mutation
C. Polyploidy
D. Deletion
E. Inversion 2n+1 chromosomes?
A. Aneuploidy B. Polyploid
C. Diploid D. Monosomy
E. Haploid
4n chromosomes?
A. Diploid
B. Triploid
C. Monoploid 9. Which of the following human disorders caused by
D. Tetraploid nondisjunction?
E. Haploid A. Hemophilia
B. Sickle cell disease
C. Down syndrome
D. Anemia
4. Which of these terms describes an organism with
E. All of the above
extra sets of chromosomes?
A. Aneuploidy B. Polyploid
C. Diploid D. Monosomy
E. Haploid 10. Which of the following is not a mutagen?
A. Brom uracil
GENETICS
B. X-ray
C. High tepmerature
5. How many chromosomes are there in each cell of
an individual with Down syndrome? D. Cigarette
E. Fruit
A. 23 B. 45 C. 46 D. 47 E. 48
54
HUMAN
GENETICS
IV. HUMAN GENETICS
Many genetic events are observed in simple organisms, especially in microor-

ganisms, as their chromosomes can be observed much easier. Genetic studies are
mostly done with fruits flies. Mammals have many chromosomes and complex
structures which make them difficult to study. Improvements in new methods in
Do you look more recent years have made it possible to carry out research on mammalian chromo-
like your father or somes. For years it was thought that humans had 48 chromosomes, but in 1956
grandfather? Do 46 chromosomes were found. This number can vary to 48, 47 or 45 by mutations
you have your father's (for detailed information see the mutation topic).
eyes? What about Uncle Genetic studies in humans are very limited. Today the study of human genetics
Suleyman's cheekbones? can’t advance as rapidly as fruit fly or bacteria genetics.
Brown eyes, blue, green,
or gray; hair of black, Human genetics:
brown, blond, or red -
these are just a few exam- Determines how hereditary information is passed from generation to ge-
ples of the traits that are neration and observes these traits in individuals.
inherited from parents. Studies the relationship between hereditary information and the environ-
What genetic principles ment.
GENETICS
account for the transmis-

Helps in treating genetic diseases.
sion of such traits from par-
ent to offspring? The Human inheritance can be studied by pedigree analysis, population stud-
answer is the gene. ies and molecular biology-recombinant DNA technology
56
Human karyotype and idiogram A pedigree: is a
table, chart or dia-
The 46 chromosomes in human cells are found in 23 pairs. Of these chromo-
gram that shows
somes, 44 are body chromosomes, or autosomes. The other two chromosomes
the ancestral history of an
are sex chromosomes. In sex cells these are 23 chromosomes: 22 are autosomes
individual. Human inheri-
and the other one is a sex chromosome. In unusual circumstances the number of
tance was traditionally
autosomes and genomes may increase or decrease (see mutation). These chan-
studied by how a trait that
ges also influence the phenotype of the individual.
exists as two distinct attrib-
Female Male utes (albino or non-albino)
occurred in a particular
ª44+XX ª44+XY family. Many early genetic
studies were of rare dis-
ª (22+X) (22+X) ª (22+X) (22+Y)
eases common in certain
families but not in the
Some of the human chromosomes are very similar and difficult to distinguish. human population as a
That’s why a unique Chromosome Naming System was set up and agreed to in- whole. Pedigree analysis is
ternationally. According to this system chromosomes are divided into 7 groups (A, still useful but it has limita-
B, C, D, E, F, G) based on their size and the position of their centromeres. Apart tions because human fami-
from sex chromosomes, the other chromosomes are numbered from 1 to 22 in lies tend to be small and
order of their size (Figure-4.1). information about certain
Using special staining techniques, the bonding patterns of chromosomes can family members may not
be seen. These bonding patterns are found in the chromosomes especially during be available.
mitosis. Bonding patterns help in the classification of chromosomes and the re-
cognition of chromosomal abnormalities.
Karyotype refers to the alignment of chromosomes accor-
ding to a certain system, and idiogram refers to the diagram of
this karyotype (photomicrograph of the chromosome composi-
tion). Today, with the help of new techniques, some of the nuc-
leotide sequence of human chromosomes has been defined. It’s
possible to cut DNA from certain regions and replace it with a
different piece of DNA. Genetic engineers plan to replace the di-
sease-causing genes. This has great importance for humanity.
A: Chromosomes from 1 to 3
B: 4th and 5th chromosomes
C: Chromosomes from 6 to 12
Human Genetics
D: Chromosomes from 13 to 15
E: Chromosomes from 16 to 18
F: 19th and 20th chromosomes
G: 21th and 22th chromosomes
Figure-44.1.: Human chromosomes; grouping (upper) and illustration

(right).
57
Pedigree (Family Tree)
The relationship between some traits, chromosomes and
their distribution among members of a family is shown in a
pedigree. A pedigree is used to determine whether an indivi-
dual is heterozygous or homozygous for a certain trait, and to
calculate the possibility of exhibiting this trait in the phenoty-
pe. Females are indicated by circles, males by squares, and
different characteristics by different colors. Pedigrees are ba-
sed on observation. First statistical data is collected, and then
laws of probability are applied to this data.(Figure-4.2)
In autosomes, allele genes are located on reciprocal loci
of homologous chromosomes. The sex cells are both the sa-
me in females (XX) but different in males (XY). For this rea-
Figure-4
4.2.: The symbols used to prepare family trees. son pedigrees are prepared according to autosomes and to
sex chromosomes.
Autosomal Pedigree
Related genes are located on autosomal chromosomes as
dominant or recessive. In figure 5.30 you can see how a dise-
ase is passed on to the offspring through a recessive gene.
The individual shown in black inherit the disease.(Figure-4.3)
Gonosomal Pedigree (Pedigree Based on Sex Chromosomes)

Related genes are located on X and Y chromosomes.
They can be dominant or recessive. While the genes located
on only Y chromosomes can be seen only in males (attached
figures), the genes located on X chromosomes can be seen
in both males and females. (Figure-4.4)
Figure-4
4.3.: In autosomal inheritance, related genes are present on the
autosomal chromosomes. The inheritance of a recessive trait is shown
above.
GENETICS
Figure-4
4.4.: Inheritance of colorblindness
is shown in a family. Genes related to sex
inheritance is present on the sex chromoso-
mes.
58
Sex-linked inheritance in human
In humans, inheritance is based on X,Y and XY
chromosome linkage. X-linked inheritance is seen only
in females. However Y and XY-linked inheritance affects
both males and females.
X-Linked Inheritance
The effective genes are recessive and found on the
X chromosome. Colorblindness and hemophilia are
examples of X-linked inheritance.
Colorblindness: A colorblind individual can not dis-
tinguish between red and green (Daltonism). The gene
for colorblindness is represented by “r”, while the gene
for normal vision gene is represented by “R”. Because
females have XX sex chromosomes, colorblindness can
occur only if the colorblindness gene is homozygous
(XrXr). Since males have only one X chromosome,
even a single gene for colorblindness can express its characteristic by itself. That’s
why in human populations the probability of colorblindness is higher in males than
females. For example, if in a human population consisting of 10 X-chromosomes
there is only one colorblindness gene, there will be one colorblind male in 10, but
in females this ratio will be 1/100.
(XrY) = 1/10 (XrXr) = 1/10 x 1/10 = 1/100.
Example : A normal-sighted woman marries a normal-sighted man.

Fifty-percent of their sons are colorblind. According to this result the ge-
notypes of the parents will be as shown below. As you see in the diag-
ram, the mother is a carrier of this gene. A carrier mother has normal vi-
sion although she has one recessive gene for colorblindness.
Color blindness is
usually classed as a
disability; however,
in select situations color
blind people have advan-
tages over people with
normal color vision. Color
Human Genetics
blind hunters are better at
picking out prey against a
confusing background,
and the military have
found that color blind sol-
diers can sometimes see
through camouflage that
fools everyone else.
59
Wherever you go,
look around you.
You don't have the
same skin color, the same
kind of hair, or the same
height as everyone else.
Why do you resemble
some people but do not
look like others at all?
Hemophilia is the
name of any of sev-
eral hereditary
genetic illnesses that
impair the body's ability to
control bleeding. Genetic
deficiencies cause lowered
plasma clotting factor
activity so as to compro-
mise blood-clotting; when
a blood vessel is injured, a
GENETICS
scab will not form and the

vessel can continue to
bleed excessively for a very
long period of time.
60
Figure-44.5.: Y-linked inheritance. The characteristics of Y chromoso-
me are only found on Y chromosome. For this reason, these characte-
ristics are only seen in male.
SEX LINKAGE
Sex linkage is the phenotypic expression of an allele that is dependent on the sex of the
individual and is directly tied to the sex chromosomes.
In such cases there is a homogametic sex and a heterogametic sex. In humans the homoga-
metic sex is female (XX) and the heterogametic sex is male (XY), thus the sex linked
genes are carried on the X chromosome. Dominant sex-linked genes are rare. Potentially
expressed in both sexes, a sex preference may still exist. X-linked recessive genes are
expressed in all heterogametics, but only those homogametics that are homozygous for the
recessive allele. Wherever you go,
Human Genetics
The recessive phenotypes of such genes are more common in males than in females; to be look around you.
You don't have the
precise, the incidence in females is the square of that in males, so if 1/20 of the male
same skin color, the same
population is green-blind, 1/400 of the female population is. (AIS does not follow this kind of hair, or the same
rule because it interferes with reproduction.) height as everyone else.
Why do you resemble
Sex-linked traits are inherited through chains of carrier mothers. That is, a girl, her moth- some people but do not
er, and her mother's mother all are carriers, while some of their sons have the trait. look like others at all?
61
Human blood
types and their ge-
notypes are formed
through double combi-
nants of 3 different genes.
The phenotypes
and genotypes of
blood groups. The
Hemophilia: Hemophilia is an inherited disease in which the blood clots very
antigen and antibody rela-
slowly or not at all. This disease is more lethal than colorblindness. The gene for
tion and their precipitati-
hemophilia is represented by “h” and the normal gene by “H”. Colorblindness and
on. A blood type has the
hemophilia show the same hereditary pattern.
Antigen A. Therefore, no
precipitation occurs, if we Example: The offspring of a healthy (non-carrier) mother and hemophiliac fat-
add antibody A to this blo- her will be as shown below. Additionally the genotypes of the offspring of a carrier
od group, precipitation fol- mother and a hemophiliac father are given in figure below.
lows. In this way, blood
groups are determined. Y-linked inheritance
The genes located on the part of the Y chromosome that is not homologous
to the X chromosome cause Y-linked inheritance. These genes are haploid and fo-
und in males. For this reason they express their characteristics in males at a rate
of 100%.
Here are some examples of Y-linked traits: attached fingers, hair in the ear ca-
GENETICS
Table-44.1.: The phenotypes and genotypes of blood groups. The antigen and Antibody Figure-44.6.: The inheritance of the four different blo-
relation and their precipitation. A blood type has the Antigen A. Therefore, no preci- od types is controlled by the A, B, and O alleles, with
pitation occurs, if we add antibody A to this blood group, precipitation follows. In alleles A and B dominant while the O allele is reces-
this way, blood groups are determined. sive.
62
nal and scaled skin. (Figure-4.5)
XY-linked inheritance
The related genes are located on the homologous parts of the X and Y chro-
mosomes (synapsis). Examples of this type of inheritance are complete colorb-
lindness, and over-sensitivity of eyes and skin to light.
Hemophilia and colorblindness are commonly seen in intermarried families.
Because similar genes are found in the gene pool of a certain population, the pos-
sibility of receiving disease-causing genes is higher in intermarriages. In such po-
pulations genetic diseases are shown by pedigree analysis.
Although we all
Blood Type in Humans look quite different
from one another,
In 1904, Landsteiner discovered that there are four blood types. To separate we are surprisingly alike at
blood into groups, he observed the reaction between the erythrocytes of one indi- the DNA level. The DNA
vidual and the blood serum of another individual. If erythrocytes from one person of most people is 99.9 per-
are mixed with the serum from another person, either the erythrocytes scatter in cent the same. Only about
the serum homogeneously or gather together in clumps (agglutination), after 3 million base pairs are
which they rupture (hemolysis). In this way Landsteiner divided human blood into responsible for the differ-
four groups: A, B, AB, and O. ences among us - which is
Blood type is determined by antigens found on the membrane of erythrocytes. only one tenth of 1% of our
[Antigens, usually proteins in form, cause antibody formation when they are given DNA. Yet these DNA base
to a living thing. Antibodies are proteins formed to defend against antigens. sequence variations influ-
ence most of our physical
If a person’s erythrocytes contain protein A (antigen), that person has type A differences and many of
blood. If protein B, that person has type B blood. If both proteins A and B, then our other characteristics,
the blood is type AB. If there is no antigen present, that person has type O blood. as well.
The inheritance of the four different blood types is controlled by the A, B, and
O alleles, with alleles A and B dominant. If the A and B alleles are found together
it is called co-dominance, while the O allele is recessive (Figure-4.6)
Accordingly, the genotypes for type A blood are AA or AO. The genotypes for
type B blood are BB or BO. The genotype for type AB blood is AB, because they
are codominant. The genotype for type O blood is OO, because it is recessive. Blood transfer figu-
This situation can be understood better with the table-4.1. re AB group rece-
If the table is examined, it is seen that antibodies (antiserum) in the serum are ives from all other
antagonistic to specific antigens in the erythrocytes. If the serum contains an an- but only donates to its own
Human Genetics
tibody antagonistic to an antigen in an erythrocyte, for example, if the A antigen group. O group receives
and the anti-A antibody are found in the same blood, the antibody combines with only from its own group
the antigen, causing precipitation. and donates to all others A
group receives from O and
Blood transfusion is done to strengthen people. It is very important to consider A group and gives to A and
whether the antigens in the serum of the blood donor are an appropriate match AB groups, B group rece-
for the recipient. ives from O and B, and do-
As can be readily understood from the diagram right, all blood types can rece- nates to B and AB group.
63
ive type O blood, because type O blood has no anti-
gens. Type O blood can be called the universal do-
nor. Type AB can receive blood from any of the other
groups because it has no antibodies in its serum
(universal recipient). Blood type O can receive only
from itself, type A can receive types A and O, and
type B can receive types B and O. Although blood
type AB can receive blood from all the other groups,
it donates its blood only to itself. This group is called
“stingy”
As described above, the interactions between
blood groups prohibit the transfusion of blood from
one group to another, apart from extreme circums-
tances. Agglutination reactions take place when blo-
od transfusion is made between different groups. In
a strong reaction, aggregated erythrocytes clog ca-
pillaries and cause the recipient to go into shock and
even die. During surgery, accidents or extreme emer-
gencies, it is frequently necessary to transfuse blood
from one person to another who has lost blood. A
Figure-44.7.: Blood incompatibility. The mother produces antibodies in response thorough understanding of the relationship between
to the antigens on the fetal red blood cells. antigens and antibodies is vitally important in medi-
Some of the mother’s antibodies cross the placenta and enter the blood of her fe-
tus, causing RBC’s to rupture. cine. Especially when blood from a different group is
given, either the recipient’s antibodies break down
the donor’s erythrocytes, or the donor’s antibodies
break down the recipient’s erythrocytes. If the trans-
fusion is made gradually, in small amounts, and if
there aren’t any antibodies against the donor anti-
gens in the recipient’s serum, it can be assumed that
the transfusion will be successful. Under these cir-
cumstances, even if some antibodies against the re-
cipient’s antigens pass through in the donor’s se-
rum, the density of these antibodies is either greatly
diluted in the recipient’s blood, or they are absorbed
by other tissues. In blood transfusion, the effect of
the antigens on the outcome is more important than
the effect of the antibodies. The best blood transfu-
sion is the transfusion made between two people
with the same blood type.
Blood types are inherited by children from their
parents according to Mendel’s principles. If the mot-
her’s and father’s blood types are known, the chil-
dren’s blood types can be predicted. In some suspi-
GENETICS
cious cases, blood type can be effective in determi-

ning a child’s true mother and father, which prevents
babies from being switched in the hospital. Blood
types are also used to clarify many judical and medi-
64
cal circumstances. In recent years, other alleles (A2, A3, AX, AM, etc.) have been
Nondisjunction is
found at the site of the gene for blood type, close to the A and B alleles. There is the error in which
little difference in the antigenic features between these alleles. The four different the members of a
blood groups of the ABO system are found in different frequencies in different po- pair of homologous chro-
pulations. mosomes do not move
apart properly during
Factors of blood groups meiosis-1 or in which sister
chromatids fail to separate
In humans, in addition to the ABO blood system, there are Rh and MN factors
during meiosis-2. In these
that have roles in blood determination. Rh factor (antigen): In human blood gro-
cases one gamete receives
ups, another important system is the Rh factor. The Rh factor was first identified
two of the same chromo-
when blood from Rhesus macacus. The gene that determines Rh factor in hu-
somes and another gamete
mans is represented with symbol Rh. About 85% of humans carry the Rh antigen
receives no copy.
(dominant), while 15 % of humans do not (recessive). That is, if there is Rh anti-
gen in a person’s blood, he/she is Rh+ (positive). If it is absent, he/she is Rh– (ne- Nondisjunction may take
gative). place in autosomes or in
sex chromosomes.
Rh incompatibility: The placenta is a specialized structure that transfers ma-
terials in the blood between mother and fetus. Material transfer takes place by os- Alternations of chromo-
mosis and active transport. Because of the placenta, maternal and fetal blood some number cause some
don’t mix under normal circumstances. But near the time of birth the break down genetics disorders, such as
of veins or permeability of the placenta can increase. In such situations, depen- aneuploidy and polyploidy.
ding on the blood types involved, blood incompatibility can emerge. Blood incom-
patibility occurs when an Rh– mother is pregnant with an Rh+ fetus. In this case,
Rh antigens are found in the blood of the fetus because the gene for Rh factor is
dominant. In the period near birth, if some fetal blood with Rh antigens passes in-
to the mother’s bloodstream, antibodies against these antigens are formed. Sub-
sequently, antibodies may pass through the placenta into the fetus and destroy fe-
tal erythrocytes.
This condition is called erythroblastosis fetalis. A first child may be born wit-
hout being affected by the antibodies, but second or further children have almost
no chance (now there are some supressor medicals to alter this problem ). Once
the mother’s body has been exposed to these antigens, antibodies are produced
very rapidly after any subsequent exposure, and pass to the fetus. Blood incompa-
tibility can be remedied by blood transfusion. The blood of the baby must be trans-
fused with either the Rh– variant of its own blood type, or with Rh– type O blood.
(Figure-4.7)
Today, if this situation is detected early, the mother’s antigen-producing cells
can be rendered ineffective by several drugs. After this preventative measure, no
Human Genetics
problems are observed in subsequent pregnancies. If the Rh factors of both the
mother and the father are known, this disease can be prevented without any harm.
M,N factor: In the M, N blood group system, genes M and N play an important
role. These two alleles are codominant. These two alleles in humans are found in
the genotypes MM, MN and NN. The phenotypes are identified as M, MN and N.
Because antibodies related to the MN system aren’t produced by humans, the blo-
od group of the individual with respect to the MN system isn’t a problem in blood
65
transfusion.
Human genetic diseases

Traditions, ethical rules and laws forbid experimenta-
tion on humans even for scientific reasons. For this rea-
son, research on humans is based on observations,
twins, pedigree, population methods and genetic engine-
ering.
Scientific developments have made it easier to recog-
nize and treat genetic diseases.
Here are some common genetic diseases:

Gene disorders; diseases caused by the effects of
genes or gene pairs. According to Mendel’s prin-
ciples, they are inherited disorders. They are inhe-
rited by autosomal dominant or autosomal reces-
sive inheritance, or X and Y linked inheritance.
Chromosomal Abnormalities; having more chromosomes than normal .
(Down’s, Turner’s …..)
Multifactorial Inheritance; caused by many genetic and non-genetic factors
(types of cancer)
Nondisjunction in human
Nondisjunction is divided into two types as autosomal which occurs in somat-
ic or body chromosomes and gonosomal which occurs sex chromosomes.
Autosomal nondisjunction
E r y t h ro b l a s t o s i s Down syndrome: The most common example is Mongolism or Down's syn-
fetalis is an alloim- drome in humans. It is usually caused by an extra copy of human chromosome
mune condition 21. It is characterized by varying degrees of mental retardation; short in height,
that develops in a fetus round full face enlarged and creased tongue, and noticeable eye folds. They are
when the IgG antibodies also infertile.
produced by the mother It is 100 times more likely in the offspring of mothers who are 45 years or older
and passing through the than it is in the offspring of mothers who are 19 years of age.
placenta include ones
which attack the red blood The chromosome formula of these individuals is as follows: for females,
cells in the fetal circulation. 45+XX = 47; for males, 45+XY = 47
The red cells are broken
down and the fetus can
develop reticulocytosis
GENETICS
Male Female
and anemia. The fetal dis-
ease ranges from mild to
very severe and fetal death
from heart failure.
66
ª (23+X) (22+Y) (23+X) (22+X)
ª45+XY=47 ª45+XX=47
Mongolism occurs when one of the gametes forming the

zygote has the normal number of autosomal chromosomes
(22) and the other gamete has one additional autosomal
chromosome (23).
Gonosomal Nondisjunction
The nondisjunction seen in autosomes can also be seen
in sex chromosomes. In such people the number of sex
chromosomes varies while the number of autosomes rema-
Figure-4
4.8.: The expression of PKU (an autosomal recessive disorder)
ins the same.
Klinefelter’s syndrome : 44 + XXY (47)
Turner’s syndrome : 44 + XO (45)
Metafemale : 44 + XXX (47)
PKU may be found
Metamale : 44 + XYY (47) in infants by a sim-
ple blood test.
Klinfelter’s syndrome (XXY):They have 47 chromosomes; the sex chromo-
Mental retardation can be
some makes up XXY. They are nearly normal male with small testes and enlarged
prevented if the affected
female-like breasts so they are sterile. They are quite tall and generally mentally
baby is placed on a diet
subnormal. Most live relatively normal lives. It occurs once in every 1000 male
that limits phenylalanine
births.
intake during the first few
Turner syndrome (X0): They have only one sex chromosome which makes up years.
X0. The affected people are female but undeveloped genitals and sterile. They
have characteristic neck folds and short stature. It occurs once in every 10000
female births.
Meta (Super) male (XYY): They have an extra Y chro-
mosome so their karyotype is XYY. They are tall and fertile,
but mentally subnormal, antisocial. The aggressive behav-
ior that brings them into conflict with the law is usually
against property. But also some XYY men have been
described as perfectly normal in behavior. It occurs once
in every 1000 male birth.
Meta (Super) Female (XXX): They have triple X chro-
mosome. They are female with normal physical appear-
Human Genetics
ance with XX women but they are mentally subnormal.
Autosomal Genetic diseases in humans

They are carried from one generation to the next by
autosomes not by sex chromosomes. The genes which
cause disorder can be dominant or recessive. Most genetic Figure-4
4.9.: Sickle-cell anaemia. Hemoglobin precipitates as long crys-
tals, and these cause the sickle shape of RBCs.
67
defects are caused by autosomal recessive genes, an individual must be homozy-
gous recessive in order to be affected. This means that both parents must be het-
erozygous for the trait. There is a 25% likelihood that a child of two carrier parents
will be affected by the genetic disorder
Below are given some genetic diseases and their causes. Today it’s not possib-
le to cure any genetic disease. The only thing that can be done is successful tre-
atment of symptoms.
Figure-44.10.: Stiling spot and threads for-

med from different colors. Diagnosis of color
blindness can be easily made using a bund- Recessive autosomal disorders
le of threads of different colors and the pa-
tient is asked to separate the threads, or sti- The most common autosomal genetics disorders are PKU, Sickle-cell anemia,
ling spot can be used.
Cystic fibrosis, Tay-Sachs disease, and Albinism
Phenylketonuria (PKU): PKU is a metabolic disease. Sufferers of this dise-
ase lack an enzyme named hydroxylase that converts the amino acid pheny-
lalanine into another amino acid, tyrosine. For this reason phenylalanine ac-
cumulates in blood and body tissues. High amounts of phenylalanine dama-
ge the brain and cause mental retardation. In the USA and Europe, 1 in
15,000 children has PKU. In humans there are two genes responsible for the
synthesis of this enzyme, one normal dominant, and one mutated recessive.
This can be explained by having both heterozygous parents. (Figure-4.8)
Albinism: A person that lacks the ability to produce dark brown or black pig-
ment melanin. This pigment is responsible for most of the color of hair, skin
and eyes. Without melanin an individual appears completely unpigmented,
with extremely light skin, white or pale yellow hair and pink eyes (caused by
underlying blood vessels).
Cystic Fibrosis: In northern Europe, one in 5,000 has this disease. The dis-
ease is characterized by abnormal secretion in the body. A Person who is
homozygous with cystic fibrosis lacks a functional form of a transmembrane
protein that is a CI ion channel. Cystic fibrosis affects the mucus producing
glands of the respiratory system, leading to recurring bouts of bronchitis,
pneumonia, and other respiratory symptoms. It also affects pancreas, which
among other things produces enzyme for fat digestion. So affected person
must eat low fat diet and takes special medicines to aid digestion.
Sickle Cell anaemia: It is an autosomal recessive disorder that causes red
blood cells to be sickle-shaped rather than the normal disk-shaped.
The change in shape is the result of abnormal form of hemoglobin.The abnor-
mal hemoglobin called S differs from normal hemoglobin, called hemoglobin A by
GENETICS
one amino acid (glutamine instead valine).

Picture-4
4.2.: Marfan syndrome: It is an Because of their shape sickle-cells block small blood vessels, causing tissue
autosomal dominant connective tissue dis-
order characterized by unusually long damage (especially in the lungs, hear, kidneys) and pain.
limbs.
68
Sickle cell anemia can also lead the strokes if they block brain blood vessels.
As scientists
They are poor oxygen carriers. Sickle cell anemia is most common in persons of
learn more about
African descent. (Figure-4.9)
human genetics it is
important that we prepare
ourselves to use this knowl-
Color blindness: The eye contains cells sensitive to red, green and blue wa-
edge well-not to stigmatize or
velengths of light which provide color vision. The gene controlling formati-
discriminate but to improve
on of cells sensitive to blue light is found on autosomes and is recessive. Ab-
human health.
sence of this gene results in not being able to see the color blue. The gene
responsible for red and green vision is located on the X chromosome. Lack
of this gene results in color blindness. (Figure-4-10)
Tay-Sachs disease: A genetic disorder that involves the inability to synthe-
size an enzyme that prevents lipid building up in brain cells. As the lipid col-
lects, the nervous system begins to break down.
Hemophilia: Gene found on the X
chromosome. Lack of this gene re-
sults in slow or no blood clotting.
Hair loss: Mostly seen in males. It
was thought that a gene located on
the X chromosome was responsible
for this, but it’s found that an autoso-
mal recessive gene causes baldness.
This gene can be found heterozygo-
us in males but not in females.
Deafness, Dumbness: Deafness oc-
curs either from environmental fac-
tors (ear infection) or inheritance.
Autosomal recessive genes play a ro-
le. Healthy parents may have deaf
and dumb children, which means the
parents carry this gene.
Multifactorial Diseases: Diseases
caused by both inheritance and envi-
ronmental factors. Hypertension,
cancer, diabetes, harelip, cleft palate
can be given as examples. In adults
many diseases are multifactorial.
Human Genetics
Dominant autosomal disorders
Dominant disorders can be expressed
even they are heterozygous.
Huntington's Disease: It is a serious
hereditary disorder of human that is
both dominant and lethal. Figure–4.11.: Certain genetic diseases and other abnormal conditions can be diagnosed befo-
Huntington's disease produces men- re birth by amniocentesis.
69
Genetic diseases
cause many ethi-
cal, social, and
medical problems. It is
now possible, as we have
seen, to diagnose some
hereditary disease
parentally. Having estab-
lished the existence of a
disease in an unborn child,
what then?
tal deterioration, painful paralysis, sensory loss and ultimately death. One
thinks that this disease could only occur as a new mutation and could not
pass future generation. However, the symptoms of Huntington's disease do
Although most of
not usually begin until middle age. By that time the sufferer could have pro-
our cells have the
duced many children.
same genes, not all
genes are active in every Marfan syndrome: It is an autosomal dominant connective tissue disorder
cell. Heart cells synthesize characterized by unusually long limbs. The most serious conditions associ-
proteins required for that ated with Marfan syndrome primarily involve the cardiovascular system. The
organ's structure and func- disease also affects other body structures including the lungs, eyes, heart
tion; liver cells make liver and blood vessels. It is named for Antoine Marfan, the French pediatrician
proteins, and so on. In who first described it in 1896. Estimates indicate that perhaps 1 in 10,000
other words, not all the people has Marfan syndrome. (Picture-4.2)
genes are "switched on"
Polydactyly: Having many fingers and toes.
and expressed as proteins
within every cell. Within Oligodactyly: Missing fingers and toes.
an individual cell, the same
genes may be switched on
at some times and
switched off at other times. Diagnosis and treatment of genetic diseases
Some genetic disorders can be detected by a study of person's karyotype. A
person who is carrier of sickle cell disease PKU or Tay-Sachs disease can be found
Here are some methods used in hereditary diseases:

In heart disease, harelip formation and polydactyly, surgery is required.
Special education in Down’s syndrome.
Physiotherapy for dislocation of hip bone.
Tissue and organ transplantation for many genetic diseases.
Inhibition of active gene, or activation of an inactive gene.
GENETICS
Gene swapping and gene addition are used.

Couples intending to marry are strongly advised to have a genetic check-up
before marriage. It’s highly recommended that couples with a high risk of ha-
ving genetically defective babies not marry.
70
HUMAN GENETICS AND ETHICAL QUESTIONS
Genetic diseases cause many ethical, social, and medical problems. It is

now possible, as we have seen, to diagnose some hereditary disease
parentally. Having established the existence of a disease in an unborn
child, what then?
Prospective parents are faced with the alternatives (removal of the
embryo) versus the problems encouraged by allowing the baby to be born.
These concerns include crippling medical expenses, worries about the
quality of life that child can be expected to experience, and the strain in
family members who must care perpetually for a chronically ill person,
perhaps well into his or her adult years. People in this position faced with
difficult decisions. Now that, we are increasingly able to detect harmful alleles in a heterozygous state. Should society use such knowl-
edge to determine who should have children? If two people marry and both are identified as heterozygous for a particular genetic dis-
ease. Should they produce children, knowing that are more likely to produce a child with that genetic defect? Should a couple who
has produced one child with a genetic defect have another? As scientists learn more about human genetics it is important that we pre-
pare ourselves to use this knowledge well-not to stigmatize or discriminate but to improve human health.
RECESSIVE DISORDERS MAJOR SYMPTOMS INCIDENCE

Albinism Lack of pigment in skin, hair, and eyes 1/22.000
Excess mucus in lungs, digestive tract, liver;
Cystic Fibrosis increased susceptibility to infections; death 1/1800 Caucasians
infancy unless treated
Accumulation of galactose in tissues; mental
Galastosemia 1/100.000
retardation, eye and liver damage
Accumulation of phenylalanine in blood; lack of
Phenylketonuria 1/10.000 in USA and Europe
normal skin pigment, mental retardation
Sickle-Cell Disease Sickled red blood cells, damage to many tissues 1/500 Africans and Americans
Lipid accumulation in brain cells; mental defi-
Tay-Sachs 1/3500 Jews from central Europe
ciency; blindness; death in childhood
DOMINANT DISORDERS MAJOR SYMPTOMS INCIDENCE
Human Genetics
Achondroplasia Dwarfism 1/25.000
Alzheimer Disease (one type) Mental retardation; usually strikes late in life Not known
Mental deterioration and uncontrollable move-
Huntington Disease 1/25.000
ments; strikes in middle age
Hypercholesterolemia Excess cholesterol in blood; heart disease 1/500 is heterozygous
71
by a blood test. Some genetic abnormalities can be detect- employed.
ed and treated before birth. Early detection increases the
Physiological Treatment: Early diagnosis is very im-
possibilities for prevention or alleviation of the effects of
portant in some diseases such as phenylketonuria. If it’s
genetic disorders. However genetic disorders cannot yet be
known that a newborn baby has PKU, the doctor can pro-
permanently cured. But genetic engineering is bringing
vide a phenylalanine-free diet. The calorie intake of the
cures closer to reality.
baby must be watched carefully. If the baby can not consu-
Ultrasonography: It involves the use of high frequency me sufficient calories, it starts breaking down body prote-
sound waves to produce image of a fetus on a monitor. ins. The proteins contain phenylalanine. This break down
will lead to an increase in phenylalanine, and the baby can
Fetoscopy: The technique that lets doctors view the
end up with mental retardation.
fetus by a device called endoscope while the fetus inside
the uterus. Protein Treatment: Some genetic diseases can be cu-
red by giving the required amino acid that the body can not
Chorionic villus sampling(CVS): A kind of technique
produce. If blood clotting protein is given to hemophiliacs
that involves taking and studying cells from chorion (the
their blood starts to clot.
outer membrane surrounding fetus)
Gene Treatment: Genetic engineers are making a gre-
Amniocentesis: The technique in which small amount
at effort to find the location of defective genes. Their aim is
of amniotic fluid surrounding the fetus is taken and fetal
to replace them with healthy forms of the same genes. For
cells within the fluid are studied for chromosomal alterna-
the moment, genetic carriers can be identified and given
tions (for example Downs syndrome). (Figure-4.11)
genetic counseling. The worldwide Human Genome Pro-
It’s possible to estimate whether a fetus has a genetic ject aims to map the genes of human beings. Today some
disorder or not by examining the mother’s and father’s of the plant, fungi and bacteria species used in medical
DNA. One of the diagnostic techniques is amniocentesis. technology are well known.
In this method, between the 14th and 16th week of preg-
1. Phenylketonuria is an autosomal recessive disor-
nancy, a needle is inserted into the uterine cavity and some der. Using "P" and "p" to represent the alleles,
of the amniotic fluid is drawn into a syringe. what is the genotype of a phenylketonuric per-
It’s possible to determine the gender and some genetic son?
abnormalities. Amniotic fluid contains cells from the skin, A. PP or Pp B. Pp only C. pp only
mouth and epithelium of the intestines of the fetus. By D. Pp or pp E. All of the above
analysis of the chromosomes taken from a fetus that is 8-
9 weeks of age, many genetic diseases can be diagnosed.
In the diagnosis of some diseases (PKU, sickle cell ane-
mia), more simple methods are used. A few drops of blo- 2. Hemophilia in humans is due to an X-chromo-
od taken from the baby’s heel are filtered and dried. The some mutation. What will be the results of mating
bloody part of the filter paper is cut out and placed into between a normal (non-carrier) female and a
nuts rat agar. Later, phenylalanine dependent bacteria are hemophiliac male?
inoculated. A. Half of daughters are normal and half of sons are
The growth of bacteria gives information about the hemophiliac.
amount of phenylalanine in the blood. B. All sons are normal and all daughters are carriers.
C. Half of sons are normal and half are hemophiliac;
Progress in molecular genetics increases the hope of
GENETICS
all daughters are carriers.

treatments for genetic diseases. Some genetic diseases are
D. All daughters are normal and all sons are carriers.
impossible to cure, only the symptoms are eased. In the
treatment of genetic diseases, many different methods, E. Half of daughters are hemophiliac and half of
such as physiological treatment and protein treatment, are daughters are carriers; all sons are normal.
72
GENETICS PROBLEMS
nondisjunction?
A. Down syndrome
B. Hemophilia
3. A human female "carrier" who is heterozygous for
the recessive, sex-linked trait causing red-green C. Sickle cell disease
color blindness (or alternatively, hemophilia), D. Anemia
marries a normal male. What proportion of their E. All of the above
male progeny will have red-green color blindness
(or alternatively, will be hemophiliac)?
A. 100% B. 75% C. 50% D. 25% E. 0% 8. Which of these terms applies to a human with XYY
karyotype?
A. Turner B. Mongoloid
C. Kleinfelter’s D. Super male
4. Women have sex chromosomes of XX, and men have E. Super female
sex chromosomes of XY.
Which of a man's grandparents could not be the
source of any of the genes on his Y-chromosome?
A. Father's Mother. 9. Which of the following human trait is X-linked??
B. Mother's Father. A. Down syndrome
C. Father's Father. B. Hemophilia
D. Mother's Mother, Mother's Father and Father's C. Sickle cell disease
Mother. D. Brachidactyly
E. Mother's Mother. E. All of the above
5. Which of a women's grandparents could not be 1. A man with a Y-linked disorder has three sons and
the source of any of the genes on either of her X- three daughters by the same mother. His first son has
chromosomes? two sons and two daughters by another woman. Draw
A. Mother's Father. the pedigree for this family. How could you tell if this
disorder was Y linked or sex-linked recessive?
B. Father's Mother.
C. Mother's Mother.
D. Father's Father.
E. Mother's Mother and Mother's Father.
2. In humans, red-green color-blindness is inherited as a

6. A human female "carrier" who is heterozygous for the sex-linked recessive. If a color-blind woman (rare!)
marries a man who has normal vision, what would be
Genetics Problems
recessive, sex-linked trait red color blindness, marries a
normal male. the expected phenotypes of the children?
What proportion of their female progeny will

show the trait?
A. 1/2 B. 1/4 C. 0 D. 3/4 E. All
3. A man and his wife both have normal color vision, but
7. Which of the following human disorders caused by a daughter has red-green color blindness. The man
73
sues his wife for divorce on the grounds of infidelity. to marry a man whose grandfather was galactosemic.
Can genetics provide evidence supporting his case? They are worried about having a galactosemic child.
Hint- the genotype for the man is certain; the woman What is the probability of this outcome?
can be either homozygous normal or heterozygous)
8. Suppose that a husband and wife are both heterozy-

gous for a recessive gene for albinism. If they have
dizygotic twins (two-egg), what is the probability that
4. Hemophilia and color blindness are X-linked recessive
both of the twins will have the same phenotype with
traits. When a color-blind woman married to a hemo-
respect to pigmentation.
philiac man,
(a) What is the chance for them to have a normal son?
(b) If their son was married to a woman whose mother
was color-blind, what is the chance for them to pro-
duce a normal daughter?
9. Maria's sister died of Tay-Sachs disease as a child.
(c) If their daughter was married to a normal man Maria does not have the disease, and neither do her
whose father was color-blind, and produced 1 nor- parents. Maria is pregnant with her first child. If you
mal son, 4 normal daughters, 2 color-blind sons, 2 were a genetic counselor, what would you tell her
hemophiliac sons and 1 color-blind, hemophiliac about the probability that her child will have Tay-Sachs
son, the distance between the two genes is: disease?
(d) If they have a color-blind daughter, 10. In humans, sickle cell anemia is a disease caused by a
mutation of a single locus gene which codes for an
5. Huntington's chorea is a rare fatal disease that usually
important blood protein. The allele for the normal pro-
develops in middle age. It is caused by a dominant
tein (S) is dominant to that for the one causing sickle
allele. A phenotypically normal man in his early twen-
cell anemia. What gametes would be produced by an
ties learns that his father has developed Huntington's
individual who suffers from sickle cell anemia?
chorea.
a. What is the probability that he himself will develop
the symtoms later on?
b. What is the probability that his son will develop the 11. In humans, the genes for colorblindness and hemophil-
symptoms later in life? ia are both located on the X chromosome with no cor-
responding gene on the Y. These are both recessive
genes. If a man and a woman, both with normal vision,
marry and have a colorblind son, draw the Punnett
6. Ebru and Mustafa each have a sibling with Tay-Sachs square that illustrates this. If the man dies and the
disease. Neither Ebru, nor Mustafa any of their parents woman remarries to a colorblind man, draw a Punnett
has the disease, and none of them has been tested to square showing the type(s) of children that could be
reveal Tay-Sachs trait. Based on this incomplete infor- expected from this marriage. How many/what percent-
mation, calculate the probability that if this couple age of each could be expected?
should have another child, the child will have Tay-Sachs
disease.
GENETICS
12. PKU and albinism are two autosomal recessive disor-

7. In humans, the disease galactosemia is inherited as a ders, unlinked in human. If a normal couple produced
monogenic recessive trait in a simple Mendelian man- a boy with both disorder, they want to have the second
ner. A woman whose father had galactosemia intends child:
74
GENETICS
POPULATION
Population Genetics
V. POPULATION GENETICS
Population Genetics is the application of the Genetics principles to group of

organisms (population) rather than to a single individual.
Population is a
group of individu- Population genetics has become a very important branch of genetics. Popula-
als of one species tion genetics helps to solve various problems. Knowledge of the structure of the
that live in a particular population gives us information about the frequency of diabetes, mental retarda-
geographical area. tion, heart disease, hemophilia, color blindness, etc. in the population. Knowing
the ratio of these genes in the population helps us to succeed in the fight against
Population Genetics is the these diseases.
application of the Genetics
GENETICS
principles to group of A population geneticist dealing with such problems tries to find out the frequ-
organisms (population) ency of an allele in the population, because the basis of population genetics is the
rather than to a single indi- study of gene frequencies. To better understand population genetics, the terms
vidual. gene pool and gene frequency must be well understood.
76
Population
A group of organisms of the same species that live in the
same geographical area (Ecosystem) at the same time
In nature organisms tend to live together. Interactions bet-
ween organisms can be between different species or in the sa-
me species as well. A population is a group of organisms li-
ving in the same place and belonging to the same species.
The people living in a city are the population of that city. Po-
pulation is a biological unit, and like all other biological units
it grows, changes and adapts to changing environmental con-
ditions. (Picture-5.1)
It’s essential to differentiate between clones and populati-
on. While all individual clones have identical genotypes, the
individuals compromising a population have different genoty-
pes. This difference results from sexual reproduction. Genetic
combinations occur in sexual reproduction. If we think of the
inheritance of information not at an individual level, but at a
population level, the information will be kept within the popu-
lation.
Population geneticists have to research all the genes in the Picture-55.1.: Intraspecific variation. Although the individuals of a
population. This is very difficult work. Populations consist of species are similar to each other, they have many differences as well.
many genetically diverse individuals. A human population has
males and females of all ages and characteristics.
A population’s genetic structure is determined by the in-
dividuals forming the population. To obtain timely informa-
tion about genes, the structure of the population must be
known as well as the structure of the organism. It’s impor-
tant to examine the inheritance of all varieties of a gene from
one generation to the next at the population level.
Gene Pool
The genes of all individuals in a population comprise the
gene pool. The sex cells of the individuals in a population
are the resources of the gene pool. In a gene pool, the ge-
Population Genetics
nes in gametes come together randomly.
The genetic composition of an individual is called its ge-
notype, while the genetic composition of a population is cal-
led a gene pool. In the human gene pool there are four blo-
od types, but each individual has only one of them.
The gene frequencies in populations of the same species li-
ving at different places are different. When a population ge-
neticist examines a population, he thinks of the genes as be-
Figure-5
5.1.: Gene pool. The genes of a population forming a gene pool are
ing in a big gene pool. (Figure-5.1)
homozygote, dominant, heterozygote dominant and recessive.
77
If there is no gene Gene Frequency
drift by immigra-
Every population has a unique genetic structure. This genetic structure con-
tion, no mutation
sists of the genes found in the population and the frequency with which the genes
or chromosomal change,
are found. To understand a population’s genetic structure, we need to know the
no natural selection, and
number of individuals and their genotypes. Gene frequency is the ratio of a sing-
there is random mating,
le gene to all the genes in a gene pool. For seed shape in pea plants there are two
and if the population is
genes, smooth and wrinkled. In a population, if we assume that there are 236
large, then the proportions
wrinkled and 274 smooth seed genes, a total of 500 genes, the gene frequency
of alleles in the population
will be as follows:
in successive generations
will be the same. Such
wrinkled genes 236
populations are called sta- = = 47%
total genes 500
ble populations.
Genetic Equilibrium: A condition in which the gene frequencies remain the
same from one generation to the next.
Hardy-Weinberg Principle
In 1908 G. English scientist Hardy and German scientist W. Weinberg showed
mathematically that under certain conditions genetic equilibrium is maintained,
they started their idea in the Hardy-Weinberg Law.
A law stating that under certain Ideal conditions genetic equilibrium is main-
tained or the allele frequencies in a population tend to remain constant in succes-
sive generations unless certain factors are operating. If there is no gene drift by
immigration, no mutation or chromosomal change, no natural selection, and
there is random mating, and if the population is large, then the proportions of alle-
les in the population in successive generations will be the same. Such populations
are called stable populations.
In stable populations the gene frequencies are calculated as follows:

The sum of the dominant and recessive genes for a certain trait is equal to 1.
A+a=1 or it can be indicated by p+q=1 (if p is 0.8, q is 0.2). (Figure-5.2)
The frequency of individuals in a population is formed by the fertilization of
gametes carrying the p and q alleles. (p2+2pq+q2=1)
p: Frequency of dominant gene
q: Frequency of recessive gene
The calculations of
gene frequencies 2pq: Frequency of heterozygous individuals
were derived inde-
pendently by Godfrey p2: Frequency of homozygous dominant individuals
GENETICS
Hardy, an English mathe-

q2: Frequency of homozygous recessive individuals
matician, and Wilhelm
Weinberg, a German physi-
p2+2pq: Frequency of individuals with the dominant phenotype
cian, in 1908.
78
PARENT POPULATION: The Hardy-
Weinberg theorem
describes the gene
Phenotypes pool of a stable population.
This theorem states that the
Genotypes YY Yy yy frequencies of alleles and
genotypes in a population’s
Number of plants 640 320 40 gene pool will remain con-
(total = 1000) stant over generations unless
acted upon by agents other
Genotype 640 320 40 than Mendelian segregation
frequencies = 0.64 YY = 0.32 Yy = 0.04 yy
1000 1000 1000 and recombination of alleles.
x2 x2
Number of alleles
in gene pool 1280 Y 320 Y 320 y 80 y
(total = 1,000)
Allele 1600 400

= 0.8 Y = 0.2 y
frequencies 2,000 2,000
p = frequency of Y = 0.8 q = frequency of y = 0.2
(a) Gene pool of parent population Because these
plants are diploid, in
Combination of our population of
gametes from 1000 plants there are 2,000
Y Y copies of the gene for seed
first generation
(parents) Sperm p = 0.8 YY p = 0.8 Ova color. The dominant allele (Y)
p2 = 0.64 accounts for 1600 copies
y y (640 x 2 for YY + 320 x 1 for
q = 0.2 q = 0.2 Yy). The frequency of the Y
yY Yy
qp = 0.16 pq = 0.16 allele in the gene pool of this
population is 1600/2000 =
0.8, or 80%. The y allele
yy must have a frequency of 1 -
q2 = 0.04 0.8 = 0.2, or 20%.
Population Genetics
Next generation:
Genotype
frequencies p2 = 0.64 YY 2pq = 0.32 Yy q2 = 0.04 yy
Allele p = 0.8 Y
frequencies q = 0.2 y
Figure-5
5.2: The Hardy-Weinberg rule. The
gene pool of a stable population remains
(b) Gene pool of next generation constant over the generations.
79
Example-1: In a population of 1000 people, 160 people have Rh(–) blood
type. (Figure-5.3)
a. Frequency of Rh+ gene

b. Frequency of homozygous dominant individuals
c. Frequency of heterozygous individuals
Frequency of dominant individuals, can be calculated as follows:
a. 1000 160 ⎫ 100 × 160
⎬X = = 16%
Figure-5
5.3: Hardy-Weinberg rule. The horizontal 100 X ⎭ 1000
and vertical columns show the gene frequencies.
With the Fertilisation of these, genotypic frequency x=16% q2=0.16 q=0.4 if p+q=1 p=0.6
of zygotes form
b. p2=(0.6)2=0.36
c. 2pq= 2(0.6x0.4)=0,42
Example-2: In a field 64% of all pea plants have round seeds. In this pea po-
pulation the frequency of wrinkled seed genes is calculated as follows:
NOTE: In population genetics problems, you have to know the genotype for
the trait. In this question the genotype can be either YY or Yy. That’s why we can
not say anything for sure. For this reason in crosses recessive individuals are taken
into consideration because their genotype is homozygous.
Round: 64% Wrinkled: 36%
According to the this data:
q2=36/100 q=0.6 p+q=1 p=0.4

Frequency of round seed gene is 0.4.
If the question were solved according to round-seeded individuals the answer
would be 0.8.
In a population, if there are more than two genes responsible for one trait, the
frequencies of the genes are calculated as follows:
p2 + 2pq + q2=1 (p+q+r)2=1= p2 + q2 + r2 + 2pq + 2pr + 2qr=1

This general for-
mula is the Hardy- ABO AA BB OO AB AO BO
Weinberg equation. Using
this formula, we can calcu- Example-3: In a population, the frequency of gene A is 0.2, and the frequency
late frequencies of alleles of gene B is 0.5. The frequency of individuals with AO and OO phenotypes can be
in a gene pool if we know calculated as follows:
GENETICS
the frequency of genotypes

p+q+r=1=0.2+0.5+r=1
or the frequency of geno-
types if we know the fre- r=0.3 (frequency of gene O)
80
AO +OO = 2pr + r2 =2(0.2x0.3)+(0.3)2 =0.21
Intermarriages
The possibility of having an abnormal child is high in in-
termarriages. This results from the increased chance that re-
cessive, harmful genes will combine to form a homozygous
genotype. The more distantly related two people are, the
smaller the possibility that their harmful genes will form a
homozygous offspring. Avoiding intermarriage is strongly re-
commended.(Figure-5.4)
The decrease in the heterozygous condition in intermar- Figure-5
5.4.: The decrease of heterozygoteness with growing population.
riage depends on gene frequency. Intermarriage increases
the homozygosity of harmful genes. It has been observed
that self-fertilization in some domestic animals and plants
decreases hardiness and fertility. Some corn plants decre-
ased in size and produced less grain or none at all.
Death ratio in every 1000 children
You can see the relationship between intermarriage and
death rate in the graph above. Kinness
Birth At age-1 At age-2 At age-6
Population Genetics
degree
In addition to this, because most homozygous recessive
genes are lethal in the embryonic stage, they are not inclu-
ded in this table.(Table-5.1) Cunins 20 60 80 93
Intermarriages is not dangerous completely because it Cunins-II. 25 60 80 83

increases not only the homozygosity of harmful genes but
also homozygosity of useful genes, so intermarriage can be
Not relative 18 38 47 53
useful in order to protect the expression of good traits in a
population.
Table–5.1.: The death ratio according to kinness degree
81
A heterozygote
advantage describes
the case in which the Domestication
heterozygote genotype has a
Domestication is the production by selective breeding methods of individuals
higher relative fitness than
with desired characteristics.
either the homozygote domi-
nant or homozygote reces-
sive genotype.
Inter-species Hybridization
A well-established case of Individuals formed by the combination of different species are called species
heterozygote advantage is hybrids. In nature species hybrids are very rare. Even individuals of very closely rela-
that of the gene involved in ted species mate only with individuals of the same species The best examples of this
sickle cell anaemia. The indi- are flowering plants. The pollen grains of one species can not germinate on the stig-
vidual who is heterozygous ma of another species. If fertilization occurs, the embryo dies as development prog-
for sickle cell anemia is resses. For this reason, rarely can inter-species breeding be done. Selective breeding
resistant to malaria. is done by using different varieties of individuals from the same species.
Increased resistance and increased crop yields in plants are examples. This is ar-
tificial selection. Desired individuals are obtained by mating individuals with the de-
sired characteristics. Races that exchange genes among themselves over long peri-
ods of time are weak races because the frequency of harmful recessive genes for-
ming homozygous pairs increases.
However, mating with other homozygous races forms strong hybrids. Small but
sweet apples were mated with big but tasteless apples and as a result big and sweet
apples were obtained. George H. Shull gave the name “Heterozygote advantage ”
or “hybrid vigor” to this occurrence. Hybrid vigor is used to produce commercial
Figure-5
5.5.: Heterozygote advantage.
When two homozygote corns are cros-
plants and in the domestication of animals. One successful example is the hybrid
sed. hybrid corns are obtained in F1 corn plant.(Figure-5.5)
generation. These generations are pro-
Hybrid corn increases the yield per field. Continuous self-crossing of F1 hybrids
ductive high quality in time the pro-
ductivity of these corns decreases. results in an increase in homozygosity in the F1, F2, F3, … plants. Parallel to this, a
GENETICS
82
PAPER INDUSTRY AND BIOTECHNOLOGY
Commercial Forestry has been using genetic methods for years.

These methods have not gone beyond observing species mor-
phology, strength, wood quality, and diseases, breeding plants
to obtain desired traits. At present, tissue culture and such
other methods that produce clones make it easy to grow plants
with the desired characteristics.
Genetic manupulations are made on poplar trees to get more
decrease in quality was observed. On the labels of hybrid
plants, “hybrid seed” is written. suitable and desirable ones for paper production. Some poplar
trees grow fast. But fiber quality may not be good for paper
Artificial Fertilization production. On the other hand, some other poplar trees grow
One of the most frequently used methods of producing
slowly but are high quality for paper production. With the use
better animals is artificial fertilization. For this purpose, of genetics manipulations, it is possible to produce poplar trees
sperm cells of the best quality bulls are frozen and used for that grow fast and are suitable for paper production. Especially,
artificial fertilization even long after the bulls are dead. Arti- Populus tremula was changed genetically and new poplar trees
ficial fertilization is economical and the rate of fertilization is are obtained.
high. Artificial fertilization is widely used in cattle and other
animals. Why poplar?
Polyploidy In the future with the increasing amount of wood comsumption

per person, forests will not be enough. Poplar grows relatively
As explained earlier, polyploidy is the state of possessing faster than other trees and is suitable for paper industry, has a
more than two sets of chromosomes. Polyploidy produces
economically valuable seeds, fruits, vegetables and house
great gene pool and can be produce both sexually and asexual-
plants. Plants produced with polyploidy reproduce vegetati- ly. Because of these, it is of benefit to all industries.
vely. Banana, apple, cherry, tulip, and watermelon are some
examples.
Gene Transfer
Population Genetics
Genetic engineering deals with genetic transfers using
molecular techniques, and the replacement of individuals’
genes. Genetic research makes use of bacteria, bacteriop-
hages, enzymes and plasmids. To isolate and transfer a cer-
tain desired trait the nucleotide sequence must be decoded.
Poplar trees grown by tissue culture on petri plates
Adapted from Bilim ve Teknik Dergisi
83
Artificial polyploidy also provides the formation of seedless
fruits (Picture-1.11). Eigst obtained tetraploid cells by treating
tips of watermelons with colchicine. And he used the pollen
obtained from these tetraploid plants to fertilize the flowers of
POLYPLOIDY AND AMELIORATION plants with n=22 chromosomes. As a result, a seed with 33
chromosomes were produced. And from this seed, a normal
Any abnormality of spindle fibers causes chromosomes to gath- plant and flower formed. But because of abnormal chromosome
er at one pole of the cell and polyploidy. The fruits of such a formation viable seeds could not be produced by these plants.
plant will be also a polyploid. Since animals are not formed With this triploids, huge and seedless watermelons were pro-
from their parts, polyploidy is not important for them. duced.
Colchicine is used in plants artificially to get polyploids. If new chromosome combination gives economically important
Colchicine is a posionous substance extracted from the White features, this plant is kept producing with grafting and cloning
hellebore plant. Since this substance prevents the formation of (Figure-1.46). Many apple, pear, strawberry, cherry, mulberry,
spindle fibers, it causes the chromosome number to increase. apricot etc. have such features. For this reason, using seeds
With the use of this technique, hybrids of different species that new cultivated plants are not obtained.
produce productive generations are formed. The hybrids of dif-
ferent species, generally in meiosis, unmatching of chromo-
somes leads to gamete production which are unable to fertil-
ize and are infertile. If these plants are treated with colchicine,
there will be double the number each of chromosomes they will
be able to match.The Russian scientist Karpechenko crossed
radish and cabbage. Tiriticale is a kind of cereal obtained from
the crossing of wheat and rye. This new hybrid is resistant to
the diseases that afflict wheat and rye.Besides, its flavor con-
tent is much more than those of others. It is known that this
hybrid will meet the need of the world for protein.
GENETICS
Figure-1
1.46.: Bud and Stem grafting. Grafting can be made by
attaching a bud of a plant onto another plant or a branch of a plant
Picture-1
1.11.: Seedless Fruit production. Seedless edible watermelons onto another plant. Grafting is especially used in commercially
are produced using artificial polyploidy. important plants.
84
Recent biotechnological studies increase the hope of producing
desired individuals.
Factors that unbalance populations

The Hardy-Weinberg principle is valid only if the population is
stable. If, in a population, the frequency of genes and individuals
remains the same during the passage from one generation to the
next, then the population remains stable. But gene frequencies do
not stay balanced for long. Here are some factors that cause
changes in the balance of populations:
Migration
Migration can be defined as gene transfer between two populations. Migrating
individuals change the gene frequencies of their new population. Let’s assume that
the frequency of the blue eye color gene (recessive) is 0.25 in city A, and 0.36 in
city B. Let’s suppose 5% of the people in city A migrate to city B. As a result of this
migration it’s observed that the gene frequency in city A decreases to 0.20, and in-
crease to 0.41 in city B.
Genetic Drift
Genetic drift is random change in the frequency of genes and individuals in a
small breeding population. In a fruit fly population with several eye colors, the fre-
quency of the green eye-color allele is 0.2. In winter most of the fruit flies die. If we Figure-55.6: Genetic drift in insects. After
summer, in the first winter some die, others
assume that only one green-eyed and one pink-eyed fruit fly survives, in the next survive. Survivors determine the gene fre-
generation produced by these flies the frequency of the green eye-color allele will quency of the population in the next sum-
be 0.5. In the second winter only pink-eyed flies might survive. The following year mer. For example, in the first population
the frequency of green allele would be zero.(Figure-5.6) green-eye frequency was 0.2, in the second
population it can be 0,5 in the second win-
In human populations genetic drift causes many changes and variations espe- ter, if all the individuals with green-eyes
died, in the third population, there may be
cially in small, isolated regions. Small, migrating groups will exhibit big differences no individual with green eyes.
Population Genetics
85
from the main group because the migrating group can’t
carry all genes within itself. Consequently, genetic drift
decreases diversity by increasing homozygosity.
Isolation
Large populations can be split into smaller populations
by various factors (mountains, seas, deserts, etc.). Such
isolated populations show variation over time. Isolation
can happen naturally, or artificially by human intervention
as well.(Figure-5.7)
Mutation
Since mutations cause genetic changes, they affect the
gene frequency of populations. For example, if a black ha-
ir color allele turns into a blonde hair allele the frequency
of black allele decreases while the blonde allele frequency
increases.
If the new gene formed as a result of mutation is a
harmful gene, death may occur. As a result, when the fre-
quency of this gene decreases, the frequency of another
allele increases.
Figure–5.7.: Change of a mouse population as a result of geographical iso-
lation. As the individuals of the population gets apart, the differences bet-
ween them increases. In this way, animals have introspecies variation; in Natural Selection
humans new races appear.
In a diverse population, there will be higher and lower
quality individuals. Natural selection removes the weak or
poorly adapted ones. Thus both the structure of the popu-
lation and gene frequencies change. From the standpoint
of genetics, natural selection is the elimination of those
genes that carry a low possibility of survival.
Mating partner selection

Instead of random selection of mating partners, choo-
GENETICS
86
sing partners with special characteristics leads to the formati-
on of different traits over time. This special selection results in
the formation of individuals better adapted to the surroun-
dings.
VARIATION
Besides many different species, there are many various
types of subspecies of each species.
The pea plant (Pisum sativum) has individuals with color-
ful or white leaves, green or yellow seeds. Even among indivi-
duals of the same family there are many differences. This is
true for all individuals formed by sexual reproduction and
cross-fertilization. This great diversity is brought about by cros-
sing over, alignment of homologous chromosomes in metap-
hase, mutations and conjugations.
Crossing over is the swapping of genes between homolo-
gous chromosomes during the prophase stage of meiosis.
Crossing over is the basis of genetic variation. Independent
Population Genetics
alignment of homologous chromosomes in metaphase also
plays an important role. Let’s examine this in a 2n=4 chromo-
some number. In prophase, chromosomes form tetrads. One
of the two chromosomes in each tetrad comes from the mot-
her, the other comes from the father. Let’s indicate the ones
from the mother with Z1, V1, and the ones from the father with
Z2, V2. Their alignment in metaphase can be in one of two
Figure-55.8.: The most important factor in the variation of organisms
ways. (Figure-5.8) is the sequence of chromosomes in the metaphase of meiosis. As a re-
sult of this sequence, cells with different genotypes form. Crossing-
Two of the 4 gametes produced will carry only black ge- over is also an important factor in variation.
87
nes, but in the second alignment only one cell will carry the
black gene. As you see, two different alignments of chromo-
somes make each chromosome move to a cell, and finally fo-
ur cells are formed. In addition, mutation and conjugation ca-
use variation. Conjugation is genetic exchange in bacteria.
MODIFICATIONS
All organisms show some changes from the effect of envi-
ronmental factors within limited boundaries. This is called
“modification”. Modification is the change in the phenotype of
an organism as a result of environmental factors. Modificati-
ons are not inherited and can not be passed on. Modifications
Figure-5
5.9.: Himalaya rabbits grow white fur on black parts and are caused by some factors like temperature, light, nutrition,
black fur on white parts depending on temperature. Modification in etc. and they are all under genetic control and flexibility
butterflies. The individuals of the same species are seen in different
forms due to temperature differences. The experiment carried out on Himalaya rabbits is an
example of modification. The normal color of ears, nose, feet
and tail is black. If the hair from any white-furred part is shaved off and this regi-
on is covered with ice, after a while black hair will grow. (Figure-5.9).
If you shave off the black hair and keep that region warm, white hair will come
out. Some fruit flies have straight and some have curved wings. Formation of cur-
ved wings depends on the surrounding temperature. A fruit fly lacking the gene for
curved wings, no matter whether the temperature is 16.5°C or 25°C, will have stra-
ight wings. But fruit fly eggs with the gene for curved wings incubated at 16.5°C
will give rise to straight-winged individuals, while the same eggs incubated at 25°C
give rise to curve-winged individuals. The influence of temperature on modificati-
on is also seen in plants. Such modifications change only the phenotype, the ge-
notype remains the same.
The best examples of nutritional factors resulting in modification is in honey
bees, and the in the growth relationship between queen ants and worker ants. Alt-
hough individuals belonging to both classes are formed from similar fertilized
eggs, because of different nutrition they have different body shapes and behaviors.
An example of light influenced modification is the potato plant. A potato plant
germinated in the dark has light green, small leaves, but another potato plant of
the same species germinated in the light will be normal. Both plants are genoty-
pically identical; the difference in phenotype is caused by light. If the same plant
is placed in light, in time the color turns to green.
Although the plant seed carries the gene for chlorophyll, they can not synthe-
size it in a completely dark environment, and they soon die. If they are put in the
light, they become green in color.
GENETICS
This shows that in modification the genes don’t change, but the reactions of
the genes to different environmental factors do change.
The effects of different environmental factors on the same genotype in humans
can be observed in identical twins or triplets. Both identical twins have the same
88
genetic material but they are not the same individual because en-
vironmental factors have different influences on both. Even indivi-
duals with the same genotype in the same growth medium exhibit
differences because growth conditions are never the same.
If you grow Paramecium in a culture, they will form a colony of
individuals with the same genetic identity. But when you examine
the individuals closely you’ll see that they vary in length from mini-
mum to maximum value.
No matter the conditions, the height of human beings never ex-
ceeds 180-220 cm. In all species the number of individuals is clo-
se to the mean value. If we arrange these individuals in order, a cur-
ve between three values will be formed. This curve is called a mo-
dification curve.(Figure-5.10)
Figure-55.10.: Though paramecium have the same genotype,
Environmental factors and genotype form the phenotype. The
they reach different sizes due to environmental factors. Gene-
outward appearance of an individual is called its phenotype. The rally, they are middle sized. As organisms genotypes vary mo-
genetic composition of an individual is called its genotype. re, their phenotypes resemble more and they accumulate in the
middle. The different individuals decrease in number.
Population Genetics
Phenotype = Environment + Genotype
Changes in environmental conditions lead to diversity because
The effect of environment on the formation of phenotype can be

observed, for example in hydrangea flowers color changes from
blue-violet to pink depending on the acidity of the soil
89
although genotypes remain the same, the phenotype chan-
ges.
To study the effect of environmental conditions on phe-
notype, individuals with the same genotype must be found.
This can be done in two ways: Asexual Reproduction and Se-
xual Reproduction
Asexual Reproduction:
Many plants reproduce by vegetative propagation (runners,
stolons, bulbs) and form genetically identical offspring. Such
genetically identical individuals are called clones.(Figure-5.11)
Sexual Reproduction:
Figure-5
5.11.: The offspring produced by cloning have the same genome As explained before, as a result of sexual reproduction ge-
as the parent. netic variation occurs. To conclude, we can say that it’s impos-
sible to find two identical individuals from the same parents.
(Figure-5.12)
Geneticists have used two methods to find out which has
a greater effect on the phenotype, the genotype or the envi-
ronment.
Growing individuals with different genotypes in the same

conditions.
Peas with green seeds and peas with yellow seed grown in
the same field maintain their characteristics. This shows the
precise effect of genotype on the phenotype.
Growing individuals of the same genotype in different con-

ditions.
Clones and true breeding individuals grown in different en-
vironmental conditions show phenotypical variation (modifica-
tion). But these differences are not passed on to future gene-
rations.
The genotype also has a very big effect on those traits that
are dependent on the environment. Two individuals sun bat-
hing, one blonde and the other dark, will be tanned equally.
The blonde person will get tanned more than dark.
As understood from the examples, both genotype and the
GENETICS
environment have an influence on the phenotype. On the ot-

her hand, there are some characteristics that are determined
only by the genotype, such as eye color, blood type, color
Figure-5
5.12.: Formation of homozygous generation. Homozygous ge-
nerations are formed by crossing homozygous individuals.
blindness, and attached or separate ear lobes.
90
1. The relationship of genome to organism is the
same as ______ to population.
A. cell
B. chromosome
C. species
D. gene
E. gene pool
2. Which of these individuals is a homozygous geno-

type?
A. RR B. Rr C. Tt D. XY E. ab
3. All the genes in a population are called _____.

A. phenotype B. gene pool
C. variation D. genotype
E. Hardy-Weinberg
4. Which of the following statement describes popu-

lation the best?
A. All living organisms on Earth
B. The number of lions per unit area
C. Organisms of different species that live together
D. A group of lions occupying a given area
E. The number of organisms in a particular habitat
5. In the Hardy-Weinberg theorem, q2 represents

_____.
Genetics Problems
A. the total alleles in the gene pool
B. the frequency of heterozygous dominants in the
gene pool
C. the frequency of homozygous recessives in the gene
pool
D. all of the possible phenotypes in the gene pool
E. the frequency of homozygous dominants in the
gene pool
91
GENETICS PROBLEMS
6. In a large population of lions, the frequency of the 1. A plant population consists of two flower morphs, white
dominants allele is initially 0.1. There is no migra- and red, controlled by a single locus and two alleles.
tion and no selection. What is the frequency of the The white morph represents the recessive homozygote.
recessive allele? Assume that there are two alle- The red morph consists of some combination of het-
les of this gene. erozygotes and dominant homozygotes. Assume that
50% of the population has red flowers. What are the
A. 99% B. 90% C. 50% D. 20% E. 10%
frequencies of all three genotypes assuming Hardy-
Weinberg equilibrium?
2. You have a haploid population (hey, a bunch of T4

phage!) and one loci, two allele genetics. 50% of the A
individuals die per round of replication but all of the a
7. The frequency of children homozygous for the individuals survive. Survivors reproduce at the same
recessive allele for cystic fibrosis is about 0.0009. rate, independent of genotype. You begin with a popu-
What is the frequency of heterozygotes in the lation in which the frequency of A (i.e., p) is equal to the
population? frequency of a (i.e., q). What is the ratio of genotypes
A. 0.03 B. 0.97 C. 0.06 D. 0.94 E. 0.45 following one round of selection?
3. The B allele is dominant to the b allele. The phenotype

associated with the former is brown eyes, while blue
eyes is the phenotype associated with the latter. The
brown eye allele is present in the population at a fre-
8. If the frequency of the "AA" genotype is 0.64 and quency of 0.2. Given Hardy-Weinberg equilibrium and
the frequency of the "aa" genotype is 0.04 in a no differences in allele frequencies between genders,
population, then the frequency of the "Aa" geno- what is the probability that a blue-eyed woman will
type is… marry a brown-eyed man?
A. 0.68 B. 0.60 C 0.30 D. 0.50 E. 0.32

4. A population is in Hardy-Weinberg equilibrium.
Consider only a single locus and two alleles found at
that locus. If the frequency of the a allele is 0.4, what
is the frequency of all of the possible genotypes at this
locus? (Call the other allele A. Assume that these
organisms are diploid.)
9. In a large population of randomly breeding indi-
viduals, the frequency of the dominant allele is
5. A population consists of 1200 aa individuals and is in
0.4. There is no migration and no selection. What
Hardy-Weinberg equilibrium. Assuming one-locus,
is the frequency of heterozygous individuals in
two-allele genetics, what is the frequency of the a allele
this population?
if the population consists of a total of 6,000 individu-
A. 30% B. 70% C. 90% D. 42% E. 32% als? What is the frequency of the a allele if the 1200 aa
individual population consists of a total of 60,000 indi-
viduals?
6. In a hypothetical population of 10000 people, 9100

people have brown eyes and 900 people have blue
GENETICS
10. An organism having 5 sets of chromosomes is eyes (the homozygous-recessive phenotype). If there
called… are 12000 children produced by this generation, how
many (i.e., what number) of the children would be
A. haploid B. diploid C. polyploid expected to be heterozygous for eye color? (Assume
D. monoploid E. triploid. Hardy-Weinberg equilibrium.)
92
Genetics
APPENDIX
Animal Classification
UNDERSTANDING BIOLOGICAL TERMS
PREFIXES SOME COMMON WORD ROOTS

bi, bio life (biology, study of life)
a-, ab- from, away, apart (abduct, move away from the
midline of the body) chrom color (chromosome, deeply staining body in
nucleus)
a-, an-, unless, lack, not (asymmetrical, not symmetri-
cal) cyt cell (cytology, study of cells)
auto- self (autotroph, organism that manufactures its own evol to unroll (evolution, descent with modification, or
food) gradual directional change)
bio- life (biology, the study of life) gamet a wife or husband (gametangium, the part of a
plant or protist that produces reproductive cells)
co-, con- with, together (congenital, existing with or
before birth) gon seed (gonad, an organ that produces gametes)
cyt- cell (cytology, the study of cells) hem blood (hemoglobin, the pigment of red blood cells)
morph form (morphogenesis, development of body form)
di- two (disaccharide, a compound made of two sugar
molecules chemically combined) ABBREVIATIONS
hetero- other, different (heterozygous, having unlike A Adenine
members of a gene pair)
amu Atomic mass unit (dalton)
homo-, hom- same (homologous, corresponding in ATP Adenosine triphosphate
structure; homozygous, having identical members of a
gene pair) C Cytosine
micro- small (microscope, instrument for viewing small DNA Deoxyribonucleic acid
objects) F1 First filial generation
mono- one (monocot, a group of flowering plants with
F2 Second filial generation
one cotyledon, or seed leaf, in the seed)
oo- egg (oocyte, developing egg cell) G Guanine
poly- many, much, multiple, complex (polysaccharide, a mRNA Messenger RNA

carbohydrate composed of many simple sugars) P generation Parental generation
syn- with, together (syndrome, a group of symptoms that PKU Phenylketonuria
occur together and characterize a disease)
pre-mRNA Precursor messenger RNA (in eukaryotes)
trans- across, beyond (transport, carry across)
RNA Ribonucleic acid
SUFFIXES
rRNA Ribosomal RNA
-able, -ible able (viable, able to live)
S phase DNA synthetic phase (of the cell cycle)
GENETICS
-gen something produced or generated or something that snRNP Small nuclear ribonucleoprotein complex
produces or generates (pathogen, an organism that pro-
duces disease) tRNA Transfer RNA
-logy study or science of (cytology, study of cells) U Uracil

UV light Ultraviolet light
94
SCIENTIFIC MEASUREMENT
The relationship between mass Some Common Units of Length

and volume of water Unit Abbreviation Equivalent
(at 20°C)
meter m 39 inches
1 g = 1 cm3 = 1 mL
centimeter cm 0.01 meter
millimeter mm 0.001 meter
micrometer μm 10-6(one-millionth) of a meter
nanometer nm 10-9 (one-billionth) of a meter
angstrom A 10-10 (one-trillionth) of a meter
Some Common Units of Mass

dalton or atomic mass unit
(amu) the approximate mass of Unit Abbreviation Equivalent
a proton or neutron
kilogram kg 1000 gram
mole the formula weight of a
substance expressed in grams gram g 10-3 kg
Avogadro’s number (N) milligram mg 10-3 gram

microgram μg 10-6gram
6.02 x 1023 the number of par-
ticles in one mole of any sub- nanogram ng 10-9 (one-billionth) of a gram
stance
picogram pg 10-12 (one-trillionth) of a gram
Some Common Units of Volume
Scientific Measurement
Energy Conversions
Unit Abbreviation Equivalent
calorie (cal) energy required to
raise the temperature of 1 g of
water (at 16°C) by 1°C liter L 1000 milliliter
1 calorie = 4.184 joules milliliter mL 10-3 L (1 mL = 1 cm3 = 1 cc)

1 kilocalorie (kcal) = 1000 cal
microliter μL 10-6 Liter
95
A anemia: A deficiency of hemoglobin or red blood cells.
adenine: A purine base that pairs with thymine in the aneuploidy: Any chromosomal aberration in which
DNA double helix. Adenine is also the base in the ener- there are either extra or missing copies of certain chro-
gy carrying molecule ATP (adenosine triphosphate) mosomes.
which is the energy coin of the cell.
antibody: A protein produced by a B lymphocyte that
adenosine: The nucleoside containing adenine as its protects the organism against an antigen. A protein
base. (immunoglobulin) molecule, produced by the immune
system, that recognizes a particular foreign antigen and
adenosine triphosphate (ATP): A common form in binds to it; if the antigen is on the surface of a cell, this
which energy is stored in living systems; consists of a
binding leads to cell aggregation and subsequent
nucleotide (with ribose sugar) with three phosphate
destruction.
groups. The energy coin of the cell.
anticodon: A sequence of three nucleotides on the
albinism: A hereditary inability to form melanin pig-
transfer RNA molecule that recognizes and pairs with a
ment, resulting in light coloration.
specific codon on a messenger RNA molecule; helps
affected: Individuals in a pedigree that exhibit the spe- control the sequence of amino acids in a growing
cific phenotype under study. polypeptide chain.
albino: A pigmentless white phenotype, determined by antigen: A molecule whose shape triggers the produc-
a mutation in a gene coding for a pigment-synthesizing tion of antibodies (immunoglobulins) that will bind to
enzyme. the antigen. A foreign substance capable of triggering
an immune response in an organism.
allele: Alternative form of a gene. One of the different
forms of a gene that can exist at a single locus. antiparallel: A term used to describe the opposite ori-
entations of the two strands of a DNA double helix; the
allele frequency: The percentage of a specific allele out 5' end of one strand aligns with the 3' end of the other
of the total of all alleles of a given locus in the popula- strand.
tion.
asexual reproduction: Reproduction in which there is
allopolyploid: Polyploid produced by the hybridization no fusion of gametes and in which the genetic makeup
of two species. of parent and of offspring is usually identical.
amino acid: The basic building block of proteins (or autosome: Any chromosome that is not a sex chromo-
polypeptides). Containing a basic amino (NH2) group, some.
an acidic carboxyl (COOH) group and a side chain (R -
GENETICS
of a number of different kinds) attached to an alpha car- B

bon atom.
blood group or type: One of the classes into which
amniocentesis: A technique for testing the genotype of blood can be separated on the basis of the presence or
an embryo or fetus in utero with minimal risk to the absence of certain antigens; notably, the ABO types and
mother or the child. the Rh blood group.
96
bottleneck: A sudden decrease in a population size due chromosome mutation: Any type of change in the
to adverse environmental factors; may result in genetic chromosome structure or number.
drift; also called genetic bottleneck or population bottle-
neck. clone: A population of genetically identical organisms
asexually propagated from a single individual.
brachydactyly: A human phenotype of unusually short
digits, generally inherited as an autosomal dominant. codominance: A type of inheritance in which heterozy-
gotes fully express both alleles.
C
codon: A sequence of three nucleotides in messenger
cancer: A syndrome that involves the uncontrolled and RNA that codes for a single amino acid.
abnormal division of eukaryotic cells. An informal term
for a diverse class of diseases marked by abnormal cell cross: The deliberate mating of two parental types of
proliferation. organisms in genetic analysis.
carcinogen: An agent (chemical or radiation) that caus- crossing over: A process in which homologous chro-
es cancer. mosomes exchange parts normally reciprocally but
sometimes unequally. The exchange of corresponding
cell: The basic structural and functional unit of life, chromosome parts between homologues by breakage
which consists of living material bounded by a mem- and reunion of DNA molecules normally during
brane. prophase I of meiosis but also occasionally during mito-
sis.
centimorgan (cm): A chromosome mapping unit. One
centimorgan equals 1% recombinant offspring. cystic fibrosis: A genetic disease with an autosomal
recessive inheritance pattern; characterized by secretion
central dogma: The original postulate that genetic of abnormally thick mucus, particularly in the respirato-
information can be transferred only from nucleic acid to ry and digestive systems.
nucleic acid and from nucleic acid to protein, that is
from DNA to DNA from DNA to RNA and from RNA to D
protein (although information transfer from RNA to
deletion: The loss of a chromosome segment without
DNA was not excluded and is now known to occur
altering the number of chromosomes.
[reverse transcription]). Transfer of genetic information
from protein to nucleic acid never occurs. deoxyribonucleic acid (DNA): Double-stranded nucle-
ic acid; contains genetic information coded in specific
chromatid: One of the two side by side replicas pro-
sequences of its constituent nucleotides.
duced by chromosome replication in mitosis or meio-
sis. Subunit of a chromosome after replication and prior dihybrid: An organism heterozygous at two loci.
to anaphase of meiosis II or mitosis. At anaphase of
meiosis II or mitosis when the centromeres divide and dihybrid cross: A cross between two individuals identi-
the sister chromatids separate each chromatid cally heterozygous at two loci for example, AaBb/AaBb.
becomes a chromosome.
diploid: The state of having each chromosome in two Glossary
chromosomes Structures in the nucleus of a eukaryot- copies per nucleus or cell. A cell having two chromo-
ic cell that consist of DNA molecules that contain the some sets, or an individual having two chromosome
genes. sets in each of its cells.
97
DNA gyrase: A topoisomerase that relieves supercoil- expression: In relation to genes, the phenotypic man-
ing in DNA by creating a transient break in the double ifestation of a trait. Expression may be age-dependent
helix. (e.g., Huntington disease) or affected by environmental
factors (e.g., dark fur on Siamese cats).
DNA ligase: In recombinant DNA technology, an
enzyme that seals together two DNA fragments from F
different sources to form a recombinant DNA molecule. F1 generation: The first filial generation, produced by
crossing two parental lines.
DNA polymerase: In DNA replication, the enzyme that
links the complementary nucleotides together to form F2 generation: The second filial generation, produced
the newly synthesized strand. by selfing or intercrossing the F1.
dominant allele: An allele that expresses its phenotyp- fertilization: The fusion of two gametes (sperm and
ic effect even when heterozygous with a recessive allele; ovum) to produce a zygote that develops into a new indi-
thus if A is dominant over a, then AA and Aa have the vidual with a genetic heritage derived from both parents.
same phenotype.
fitness: A measure of an individual's ability to survive
and reproduce; the chance that an individual will leave
Down syndrome: A human genetic disease resulting
more offspring in the next generation than other individ-
from having an extra chromosome 21, characterized by
uals.
mental retardation and heart and respiratory defects.
frameshift: A mutation in which there is an addition or
duplication: An extra copy of a chromosome segment deletion of one, two or a small number (not a multiple
without altering the number of chromosomes. of three) of nucleotides that causes the codon reading
frame to shift to one of two others from the point of the
E mutation during translation. Consequently the amino
acid sequence of the protein is altered from the point of
enzymes: Protein molecules that act as catalysts in
the mutation to the carboxy terminus.
biochemical reactions.
epistasis: The masking of the phenotypic effect of alle-

G
les at one gene by alleles of another gene. A situation in gamete: A germ cell having a haploid chromosome
which the phenotypic expression of a genotype at one complement. Gametes from parents of opposite sexes
locus depends upon the genotype at another locus. fuse to form zygotes. A specialized haploid cell that
fuses with a gamete from the opposite sex or mating
eukaryote: A type of cell found in many organisms type to form a diploid zygote; in mammals, an egg or a
including single-celled protists and multicellular sperm.
fungi, plants, and animals; characterized by a
gene: The fundamental physical and functional unit of
membrane-bounded nucleus and other membrane-
heredity, which carries information from one generation
ous organelles; an organism composed of such
GENETICS
to the next. A segment of DNA, composed of a tran-

cells. scribed region and regulatory sequences that make
possible transcription.
exon: The DNA bases that code for an amino acid
sequence. Exons are separated by introns that code for gene flow: The movement of alleles between local pop-
no amino acid sequences. ulations due to the migration of individuals.
98
gene locus: The specific place on a chromosome heterozygote advantage: A phenomenon in which the
where a gene is located heterozygous condition confers some special advan-
tage on an individual that either homozygous condition
gene pool: The sum of all the genetic information car- does not (i.e., Aa has a higher degree of fitness than
ried by members of a population. Note: there is no div- does AA or aa).
ing in the deep end of the gene pool!
heterozygous: Having two different alleles for a given
genetic code: The linear series of nucleotides, read as genetic character.
triplets, that specifies the sequence of amino acids in
proteins. Each triplet specifies an amino acid, and the homozygous: Having two identical alleles for a given
same codons are used for the same amino acids in trait.
almost all life forms, an indication of the universal
nature of the code. homologous chromosomes: Chromosomes that
are similar in morphology and genetic constitu-
genetics: The study of the structure and function of tion. In humans there are 23 pairs of homologous
genes and the transmission of genes from parents to chromosomes; one member of each pair is inher-
offspring. ited from the mother, and the other from the
father.
genetic maps: Diagrams showing the order of and dis-
tance between genes; constructed using crossover human genetics: The science of inherited variation in
information. humans.
genome: The complete genetic material of an organism. Human Genome: Project Federally funded project to
genotype: The genetic makeup of an organism. determine the DNA base sequence of every gene in the
human genome.
H Huntington's disease: A late but variable age onset
haploid: The condition of having one set of chromo- lethal human disease of nerve degeneration. Inherited
somes per nucleus. Haploid cells that contain only one as an autosomal dominant phenotype. Shows imprint-
member of each homologous pair of chromosomes ing individuals inheriting HD from their father show
(haploid number = n). At fertilization, two haploid significantly earlier onset than those inheriting a
gametes fuse to form a single cell with a diploid num- maternal allele. Shows genetic anticipation, in that the
ber of chromosomes. severity increase and age of onset decreases in affect-
ed individuals of later generations in a pedigree. The
Hardy-Weinberg principle: The stable frequency distri- HD gene, encoding a protein called huntingtin, has
bution of genotypes, AA, Aa, and aa, in the proportions been cloned.
p2, 2pq, and q2 respectively (where p and q are the fre-
quencies of the alleles, A and a) that is a consequence hybrid: A heterozygote. A progeny individual from any
of random mating in the absence of mutation, migra- cross involving parents of differing genotypes. Offspring
tion, natural selection, or random drift. of unlike parents.
hemophilia: A hereditary disease in which blood does hydrogen bond: A weak bond between two atoms (one
not clot properly. It is a human sex-linked recessive of which is hydrogen Glossary
genetic disorder that results in the absence of certain
blood-clotting factors, usually Factor VII. Hemophiliacs hybridization: Interbreeding between genetically dis-
suffer from an inability to clot their blood. similar parents;
99
I-J leading strand: Strand of DNA being replicated contin-
uously. In DNA replication, the strand that is made in
idiogram: A photograph or diagram of the chromo- the 5' to 3' direction by continuous polymerization at the
somes of a cell arranged in an orderly fashion. 3' growing tip
immigration: A type of migration in which individuals lethal gene: A gene whose expression results in the
enter a population and thus increase its size. death of the individual expressing it.
inbreeding: The mating of genetically related individu- linkage: The condition in which the inheritance of a
als. Mating between relatives. specific chromosome is coupled with that of a given
incomplete dominance: A type of inheritance in which gene. The genes stay together during meiosis and end
the heterozygote has a phenotype intermediate to those up in the same gamete
of the homozygous parents. locus(Plural loci): The position of a gene, DNA marker
inheritance: The reception of genetic qualities by trans- or genetic marker on a chromosome.
mission from parent to offspring.
M
inversion: A chromosomal mutation involving the
removal of a chromosome segment, its rotation map units: A measurement of the distance between
through l80 degrees, and its reinsertion in the same genes; one map unit is equivalent to a 1 percent recom-
location. The replacement of a section of a chromo- bination frequency.
some in the reverse orientation.
meiosis: Cell division in which the chromosomes repli-
intron: In eukaryotes, bases of a gene transcribed but cate, followed by two nuclear divisions. Each of the
later excised from the mRNA prior to exporting from the resulting gametes (in animals, spores in plants) receives
nucleus and subsequent translation of the message into a haploid set of chromosomes. Reduction/division by
a polypeptide. which ploidy, the number of sets of homologous chro-
mosomes, is reduced in the formation of haploid cells
K that become gametes (or gametophytes in plants).
karyotype: The chromosome complement of a cell. map unit (m.u.): The distance between two linked gene
The entire chromosome complement of an individual or pairs where 1 percent of the products of meiosis are
cell, as seen during mitotic metaphase recombinant. A unit of distance in a linkage map. The
distance equal to 1% recombination between two loci.
Klinefelter’s syndrome: In humans, a genetically
determined condition in which the individual has two X mapping: The study of the position of genes on chro-
and one Y chromosome. Affected individuals are male mosomes.
and typically tall and infertile.
Marfan's syndrome: A human disorder of the connec-
L tive tissue expressed as a range of symptoms, including
very long limbs and digits, and heart defects; inherited
lac operon: An inducible operon including three loci
as an autosomal dominant phenotype. Mutations in a
involved in the uptake and breakdown of lactose in
GENETICS
gene called fibrillin.

Escherichia coli.
Mendel's first law: The two members of a gene pair
lagging strand: A discontinuously synthesized DNA
segregate from each other during meiosis; each
strand that elongates in a direction away from the repli-
gamete has an equal probability of obtaining either
cation fork.
member of the gene pair.
100
Mendel's second law: The law of independent assort- nucleosomes: Spherical bodies formed by coils of
ment; unlinked or distantly linked segregating gene chromatin. The nucleosomes in turn are coiled to form
pairs assort independently at meiosis. the fibers that make up the chromosomes.
messenger RNA (mRNA) "Blueprint" for protein syn- nucleotide: Subunit that polymerizes into nucleic acids
thesis that is transcribed from one strand of the DNA (DNA or RNA). Each nucleotide consists of a nitroge-
(gene) and which is translated at the ribosome into a nous base; a sugar; and one to three phosphate groups.
polypeptide sequence.
O
migration: Movement of individuals between otherwise
reproductively isolated populations. Okazaki fragment: Segment of newly replicated DNA
produced during discontinuous DNA replication.
mitosis: The division of the cell's nucleus and
nuclear material of a cell; consists of four stages: operator: In prokaryotic DNA, a sequence of
prophase, metaphase, anaphase, and telophase. nucleotides near the start of an operon to which an
Cell xeroxing. Mitosis occurs only in eukaryotes. The active repressor can attach.
DNA of the cell is replicated during interphase of the
cell cycle and then segregated during the four phas- operon: A unit of genetic function common in bacteria
es of mitosis. and phages.
monohybrid cross: In genetics, a cross that involves origins of replication: Sites where the replication of a
only one characteristic. DNA molecule begins.
monosomy: Condition in which only one member of a ovum: Egg. The one functional product of each meio-
chromosome pair is present. sis in female animals.
mutagen: A chemical or physical agent that interacts

P
with DNA and causes a mutation
pedigree: A family tree drawn with standard genetic
mutation: A rare change in the nucleotide sequence of symbols, showing inheritance patterns for specific phe-
DNA; can involve substitutions, insertions or deletions notypic characters. A representation of the ancestry of
of one or more nucleotides. an individual or family; a family tree.
N phenotype: The form taken by some character (or

group of characters) in a specific individual. The
natural selection: The process in nature whereby one
detectable outward manifestations of a specific geno-
genotype leaves more offspring than another genotype
type. The observable attributes of an organism.
because of superior life history attributes (fitness)such
as survival or fecundity. phenotypic sex determination: Sex determination by
non-genetic means.
nondisjunction: The failure of chromosomes to sepa-
rate properly during cell division. The unequal segrega- phenylketonuria (PKU): An inherited disease in which
tion of chromosomes during meiosis. This forms cells there is a deficiency of the enzyme that normally con-
with either too many (possibly one or more single or verts phenylalanine to tyrosine; results in mental retar-
sets of chromosomes too many) or too few chromo- dation if untreated. Glossary
somes. Thought to be a common cause for Down
Syndrome, where sufferers often have an extra copy of pleiotropy: The ability of a single gene to have multiple
chromosome 21. effects.
101
point mutation: A mutation that can be mapped to one recombinant DNA technology: A series of tech-
specific site within a locus. A small mutation that con- niques in which DNA fragments are linked to self-
sists of the replacement (transition or transversion); replicating forms of DNA to create recombinant
addition; or deletion (frameshift) of one or a few bases. DNA molecules. These molecules in turn are repli-
cated in a host cell to create clones of the inserted
polygenic inheritance: An additive effect of two or segments.
more gene loci on a single phenotypic character.
regulator gene: A gene primarily involved in controlling
polyploid: A cell or an organism having three or more another (structural) gene. Genes that are involved in
chromosome sets. turning on or off the transcription of structural genes.
population: A group of individuals of the same species replication: Process by which DNA is duplicated prior
living in the same area at the same time and sharing a to cell division.
common gene pool. A group of potentially interbreed-
ing organisms in a geographic area. reproduction: Process by which new individuals are
produced.
probability: The expectation of the occurrence of a par-
ticular event. Rh factors: Red blood cell antigens, known as D anti-
gens, first identified in Rhesus monkeys. Persons pos-
prokaryote: An organism lacking a true nucleus, such sessing these antigens are Rh(+), those lacking them
as a bacterium or a blue-green alga. are Rh(–).
Punnett square: A diagrammatic representation of a ribonucleic acid (RNA): A family of single-stranded
particular cross used to predict the progeny of the nucleic acids that function mainly in protein synthesis.
cross. A grid used as a graphic representation of the
progeny zygotes resulting from different gamete fusions ribosomes: Organelles that are part of the protein syn-
in a specific cross. thesis machinery of both prokaryotic and eukaryotic
cells.
promoter: The specific nucleotide sequence in DNA
that marks the beginning of a gene. RNA polymerase: Enzyme that catalyzes the synthesis
of RNA from a DNA template.
protein: A three-dimensional biological polymer con-
structed from a set of 20 different monomers called RNA primer: Sequence of about five RNA nucleotides
amino acids. that are synthesized during DNA replication to provide
a 3' end to which DNA polymerase can add
R nucleotides.
random mating: Mating between individuals where the RNA processing: Modification of RNA before it leaves
choice of partner is not influenced by the genotypes the nucleus, a process unique to eukaryotes.
(with respect to specific genes under study). The mat-
ing of individuals in a population such that the union of replication: DNA synthesis. The process of copying.
individuals with the trait under study occurs according
GENETICS
to the product rule of probability. rRNA (ribosomal RNA): A class of RNA molecules,
coded in the nucleolar organizer, that have an integral
recessive allele: An allele that is not expressed in the (but poorly understood) role in ribosome structure and
heterozygous state. function. RNA components of the subunits of the ribo-
somes.
102
S translation: Conversion of information provided by
mRNA into a specific sequence of amino acids in a
segregation: Separation of replicated chromosomes to polypeptide chain.
opposite sides of the cell. Distribution of alleles on chro-
mosomes into gametes during meiosis. trait: A characteristic.
sex chromosomes: The chromosomes that determine trisomy: Condition in which a chromosome is present
the sex of an organism. In humans, females have two X in triplicate, instead of the normal pair.
chromosomes, and males have one X chromosome
and one Y chromosome. Chromosome that determines Turner syndrome: An abnormal human female pheno-
the gender (sex) of the individual. Human males have a type produced by the presence of only one X chromo-
large X and a smaller Y sex chromosomes, while human some (XO).
females have two X sex chromosomes.
Uracil: The special base of RNA.
sex linkage: The condition in which the inheritance of
a sex chromosome is coupled with that of a given gene; V-W-Y-Z
e.g., red-green color blindness and hemophilia in variant: An individual organism that is recognizably dif-
humans. Traits located on the X-chromosome. ferent from an arbitrary standard type in that species.
sex-linked gene: A gene located on a sex chromo- variation: The differences among parents and their off-
some. spring or among individuals in a population.
sexual reproduction: Type of reproduction in which wild-type: The genotype or phenotype that is found in
two gametes fuse to form a zygote. nature or in the standard laboratory stock for a given
organism. The phenotype of a particular organism
sickle cell anemia: An inherited form of anemia in
when first seen in nature.
which there is abnormality in the hemoglobin.
X linkage: The inheritance pattern of genes found on
somatic cell: A cell that is not or will not become a
the X chromosome but not on the Y.
gamete; the cells of the body.
X linked: See sex linked.
species: A group whose members possess similar
anatomical characteristics and have the ability to inter- X-and-Y linkage: The inheritance pattern of genes
breed. found on both the X and Y chromosomes (rare).
sperm: The male gamete. xeroderma pigmentosum: A disease in human beings
caused by a defect in the UV mutation repair system.
T-U
Y linkage: The inheritance pattern of genes found on
test-cross: The crossing of an organism, with an
the Y chromosome but not on the X (rare).
unkown genotype, to a homozygous recessive organ-
ism (tester). A cross between an individual of unknown Y linked: Inheritance pattern of loci located on the Y
genotype or a heterozygote (or a multiple heterozygote) chromosome only. Also refers to the loci themselves.
to a homozygous recessive individual.
Glossary
zygote: A fertilized egg. A diploid cell resulting from fer-
transcription: The synthesis of RNA from a DNA tem- tilization of an egg by a sperm cell.
plate.
103
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GENETICS
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M O D U L A R S Y S T E M

Genetics and The Gene Idea . . . . . . . . . .8 Epistasis . . . . . . . . . . . . . . . . . . . .26

Changes in Genetic Material . . . . . . . . .46 X-linked Inheritance . . . . . . . . . .59

Genetic Drift . . . . . . . . . . . . . . . . . .85

Natural Selection . . . . . . . . . . . . . .86

Mating Partner Selection . . . . . . . . .86

Asexual Reproduction . . . . . . . . . . .90

Sexual Reproduction . . . . . . . . . . . .90

Test Your Knowledge . . . . . . . . . . . . . .91

Choose The Correct Alternative . . . .91

Genetics Problems . . . . . . . . . . . . .92

Scientific Measurement . . . . . . . . . . . . .95

world populations (200 million people) are estimated to be afflicted by serious

Mendel and the gene idea

First event Second Event Probability of both together

The rules of probability are usually used in genetic studi-

Mendel and the gene idea

Mendel observed that the offspring produced from this

Mendel and the gene idea

Pay attention to the example, phenotype ratio 3:1, genotype

Sample Question: In mice; black (B) fur color is dominant

with a brown mouse.

For example, let’s

Mendel and the gene idea

Mendel’s findings can be summarized as follows:

Mendel and the gene idea

the homozygous and heterozygous individuals.

2. An organism in which the paired genes for a spe-

9. Saguaro cacti are very tall cylindrical plants that usual-

Alleles that pro-

Extending Mendelian genetics

Fur color in rabbits

Extending Mendelian genetics

ified Mendelian ratio. All of

Polygenic inheritance Proportion of population

Extending Mendelian genetics

Chromosomes and Genes and Chromosomes

The chromosomal basis if inheritance

If the F1 hybrid formed from two individuals whose ge-

and tend to remain togeth-

The chromosomal basis if inheritance

Environmental factors (Phenotypic)

types but stimuli from envi-

The chromosomal basis if inheritance

(from gene to protein)

The molecular basis of inheritance

tion for the primary struc-

The molecular basis of inheritance

are introns. Finally, even

3. What called a condition in which a single genetic

12. Suppose that the difference between 10 cm high maize

13. The weight of a certain variety of squash is determined

The genetic material in eukaryotic cells is enclosed in a nucleus. Ad-

It’s important to emphasize that crossing over is not a type of muta-

Changes in genetic material

Monoploids: Monoploids are formed by parthenogenesis of unfertilized egg.

gamete. Another cause of polyploidy is when all the chromosomes stay in

Changes in genetic material

Changing of AT/GC Ratio

distressed cat. This syn-

Changes in genetic material

Changes in genetic material

Many genetic events are observed in simple organisms, especially in microor-

account for the transmis-