PHD112 – PRINCIPLE OF GENETIC 1

PHD112 – CELL BIOLOGY

PRINCIPLE OF GENETIC 1 – PATTERNS OF INHERITANCE

Outline
Patterns of Inheritance
 Mendel’s Law
o Mendel’s experiment
o Theory of segregation
o Punnet square
o Theory of independent assortment
 Beyond Mendel’s Law
 Sex linked and linked genes inheritances

Learning Outcomes
At the end of this lecture, students should be able to:
 Describe Mendel’s experiment.
 Discuss about theory of segregation and theory of independent assortment
 Discuss Punnet Square
 Explain codominace and incomplete dominance
 Describe X-linked and linked genes inheritance

INTRODUCTION

 What is “Genetic”?
o (from Ancient Greek genetikos, “genitive” and that from genesis, “origin”), a is
the science of heredity and variation in living organisms
 Why do we need to study genetic?
o how genes are structured and how they drive biological diversity.
 Principles of Genetic:
o Patterns of inheritance
o Chromosomes and human genetic
o DNA structure and function

Early Ideas About Inheritance

 Each parent contributes equally to the offspring (reciprocal)
 Hereditary characteristics (traits) are inherited “blended” in the offspring
 Problem:
o Would expect variation to disappear
o Variation in traits persists

Mendel proved that the “blended” idea was INCORRECT

Some Vocabulary Needed

 Character: observable physical feature (e.g., flower color)
 Trait: form of a character (e.g., purple flowers or white flowers)
 A heritable trait is passed from parent to offspring

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The modern genetics view

 Scientists note parallel between Mendel’s particulate factors and chromosomes.
 Chromosomal theory of inheritance- Chromosomes are carriers of genetic
information.
 Traits are controlled by discrete genes that occur on homologous pairs of
chromosomes at a gene locus.
o Each homologue holds one copy of each gene pair.
 Meiosis explains Mendel’s law of segregation and why only one gene for each trait
is in a gamete.
o When fertilization occurs, the resulting offspring again have two genes for
each trait, one from each parent.

Chromosome theory of inheritance

1. Chromosomes contain the genetic material, which is transmitted from parent to
offspring and from cell to cell. Genes are found in the chromosomes.
2. Chromosomes are replicated and passed from parent to offspring. They are also
passed from cell to cell during the multicellular development of an organism. Each
type of chromosome retains its individuality during cell division and gamete
formation.
3. The nucleus of a diploid cell contains two sets of chromosomes, which are found in
homologous pairs. One member of each pair is inherited from the mother and the
other from the father. The maternal and paternal sets of homologous chromosomes
are functionally equivalent; each set carries a full complement of genes.
4. At meiosis, one member of each chromosome pair segregates into one daughter
nucleus and its homologue segregates into the other daughter nucleus. Each of the
resulting haploid cells contains only one set of chromosomes. During the formation of
haploid cells, the members of different chromosome pairs segregate independently of
each other.
5. Gametes are haploid cells that combine to form a diploid cell during fertilization, with
each gamete transmitting one set of chromosomes to the offspring. In animals, one
set comes from the mother and the other set comes from the father.

Genetic Terms
 Gene ---A piece of DNA that encodes a particular trait. Ex: a gene for eye-color
 Allele —an alternate form of a gene. Ex: allele for blue eyes and allele for brown
eyes
o Dominant allele — expressed whether alone or in pairs. Symbolized by a
capital letter. Ex: Brown. eye allele = B
o Recessive allele—expressed only in the absence of a dominant allele.
Symbolized by lowercase. Ex: blue eye allele = b
What is the maximum # of alleles a diploid individual can have at any given locus?
 Phenotype —the physical expression of a gene or allele. Ex: Blue eyes
 Genotype —the genetic composition of an individual.
 Locus—the location of a gene on a chromosome. Plural = loci
 Genotype—the genetic composition of an individual
 Homozygous----containing a pair of the same alleles. Can be
 Homozygous recessive—two recessive alleles EX. bb, or
 Homozygous dominant– two dominant alleles EX BB
 Heterozygous—containing two different alleles. EX Bb

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Genes
 Units of information about specific traits A pair of homologous
 Passed from parents to offspring chromosomes

 Each has a specific location (locus) on a

chromosome
 Ex: Your eyes are green, but his are grey and mine
are brown - All caused by genes A gene locus

 You have two genes, one from mom and one from
A pair of alleles
dad - called alleles

Three pairs of genes

Alleles
 Different molecular/ alternative forms of a gene Sisterchromatids
 Dominant allele masks a recessive allele that is paired
with it g
G g G G g
 Alleles occur on homologous chromosomes at a
particular location called the gene locus. R R R r r

 Allele Combinations
o Homozygous Chromosomes
S s S S s s
 having two identical alleles at a locus alleles of a
 AA or aa t T gene at a t t T T
gene locus
o Heterozygous Chromosomes
a. Various alleles are b. Duplicated
 having two different alleles at a locus located at specific chromosomes
loci.
 Aa show that sister
Figure 10.5 Homologous
o Two of the same = homozygous, chromosomes
heterozygous if it’s one of each
o Dominance expressing one trait over another
o Recessive is masked

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Genotype & Phenotype

 Genotype refers to particular genes an individual carries.
 Genotype  the genes that control characteristics
o Genotype – alleles individual receives at fertilization
o Homozygous – 2 identical alleles
 Homozygous dominant
 Homozygous recessive
o Heterozygous – 2 different alleles

 Phenotype refers to an individual’s observable traits

 Cannot always determine genotype by observing phenotype
 Phenotype – physical appearance of individual
o Mostly determined by genotype

MENDEL’S GENETIC
 provided scientists with the basis for mathematically predicting the probabilities of
genotypes and phenotypes in the offspring of a genetic cross.
 But not all genetic observations can be explained and predicted based on Mendelian
genetics.
 Other complex and distinct genetic phenomena may also occur. Such as blood types
and skin color.

Gregor Mendel (1822-1884)

 Entered monastery and became a priest
 Worked with pea plants in 1860
 When he began his work, most acknowledged that both sexes
contributed equally to a new individual.
 Mendel’s model compatible with evolution
 Various combinations of traits are tested by the environment.
 Combinations that lead to reproductive success are the ones
that are passed on.

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Mendel’s experiment
 Used garden pea, Pisum sativa
o Easy to cultivate, short generation time
o Many readily available characters or traits
o Normally self-pollinate but can be cross-
pollinated by hand
o Ease of making crosses with large flowers
 Cross-fertilization or hybridization
 Chose true-breeding varieties – offspring were like the
parent plants (identical to themselves) and each other.
 Kept careful records of large number of experiments
 His understanding of mathematical laws of probability
helped interpret results.
 Particulate theory of inheritance – based on the
existence of minute particles (genes)
 Mendel studied 7 different traits.
o Flower colour
o Flower position
o Seed colour
o Seed shape
o Pod shape
o Pod colour
o Height
 Experimental genetics began in an abbey garden
o Modern genetics- Began with Gregor Mendel’s quantitative experiments with
pea plants
 Mendel crossed pea plants that differed in certain characteristics
o And traced traits from generation to generation

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Tracking Generations
 Parental generation (P) P
mates to produce

 First-generation offspring (F1) F1

mate to produce

 Second-generation offspring (F2) F2

Mendel’s Law
 suggested that heredity was particulate, not acquired, and that the inheritance
patterns of manytraits could be explained through simple rules and ratios.
 Laws of heredity
o 1st – law of segregation
 One-trait testcross
o 2nd – law of independent assortment
 Two-trait testcross

Mendel’s laws and meiosis

 Segregation – pairing and segregation
 Independent assortment – behaviour
of chromosome; random alignment of
chromosome pairs
 Example:
o Gene for earlobes and hairline
on different chromosomes
o Gametes have all possible
combination of alleles.

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1. Law of segregation

 States:
o Each individual has two factors for each trait
o Each factors segregate (separate) during the formation of the gametes
o Each gamete contains only one factor from each pair of factors
o Fertilization gives each new individual two factors for each trait

Considering Only One Trait

 F1 generation is monohybrids.
 The monohybrids were then allowed to self-pollinate to form the F2 generation: A
monohybridcross.
 Mendel repeated this for all seven traits.
Monohybrid Cross  A cross that involves hybrids for a single trait is
called a monohybrid cross.
Dihybrid Cross  The simultaneous inheritance of two or more traits in the
same plant is a dihybrid cross.
 Dihybrids are heterozygous for both traits.

 One-trait testcross
o To see if the F1 carries a recessive factor, Mendel crossed his F1 generation
tall plants with true-breeding, short plants.

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 Testcross
o Used to determine whether or not an individual with the dominant trait has two
dominant factors for a particular trait
 If a parent with the dominant phenotype has only one dominant factor, the results
among the offspring are 1:1.
 If a parent with the dominant phenotype has two dominant factors, all offspring have
the dominant phenotype.

 One-trait inheritance
o Original parents called P generation
 First-generation offspring F1 generation
 Second-generation offspring F2 generation
o Crossed tall pea plants with short pea plants
 All F1 are tall
 Had shortness disappeared?
o Punnett square
 Shows all possible combinations of egg and sperm offspring may
inherit
o When F1 allowed to self-pollinate, F2 were 3/4 tall and 1/4 short
 F1 had passed on shortness.

First Results
 One trait of each pair disappeared in the F1 generation and reappeared in the F2 —
these traits are recessive.
 The trait that appears in the F1 is the dominant trait.
 The ratio of dominant to recessive in the F2 was about 3:1.
 Mendel called this the “Particulate Theory”
 Mendel reasoned 3:1 ratio only possible if
o F1 parents contained 2 separate copies of each heritable factor (1 dominant
and 1 recessive).
o Factors separate when gametes form and each gamete carry only 1 copy of
each factor.
o Random fusion of all possible gametes occurred at fertilization.

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 Single-factor cross
o Experimenter follows the
variants of only 1 trait
 P generation
o True-breeding parents
 F1 generation
o Offspring of P cross
o Monohybrids – if parents
differ in 1 trait
 F2 generation
o F1 self-fertilizes

Mendel’s Experiments

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Testcross
 Geneticists use the testcross to determine unknown
genotypes
 The offspring of a testcross, a mating between an
individual of unknown genotype and a homozygous
recessive individual
o Can reveal the unknown’s genotype

Punnett square
 Step 1. Write down the genotypes of both parents
o Male parent: Tt  TT and Tt are tall
o Female parent: Tt  tt is dwarf
 Step 2. Write down the possible gametes that each parent can make
o Male gametes: T or t
o Female gametes: T or t
 Step 3. Create an empty Punnett square.

 Step 4. Fill in the possible genotypes

 Step 5. Determine relative proportions of genotypes and phenotypes.

Genotype ratio  TT and Tt are tall Phenotype ratio
TT :Tt : tt  Tt is dwarf Tall : dwarf
1 : 2 : 1 3 : 1

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Meiosis & Genetic Variation

 Independent Assortment
o Diploid organisms can produce 2n
diff. gametes
 Ea. homologous pair can
orient in two different ways
 Humans: 223 = 8,388,608
(est. 8.4 million)

Hypothetical Example Of Independent Assortment

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 During meiosis I, tetrads can line up 2n different ways.

 Example:

2. Law of independent assortment

 States:
o Each pair of factors segregates (assorts) independently of the other pairs
o All possible combinations of factors can occur in the gametes
 When all possible sperm have an opportunity to fertilize all possible eggs, the
expected phenotypic results of a two-trait cross are always 9:3:3:1.
 Two-trait inheritance – two-trait testcross

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Two-trait inheritance
 Mendel crossed tall plants with green pods (TTGG) with short plants with yellow pods
(ttgg).
 F1 plants showed both dominant characteristics – tall and green pods
 2 possible results for F2
o If the dominant factors always go into gametes together, F2 will have only 2
phenotypes.
 Tall plants with green pods
 Short plants with yellow pods
o If four factors segregate into gametes independently, 4 phenotypes would
result.

 Mendel’s law of independent assortmentstates that:

o alleles of a pair segregate independently of other allele pairs during
gameteformation

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 An example of independent assortment

Mendel’s laws and probability

 Punnet square assumes
o Each gamete contains one allele for each trait.
 Law of segregation
o Collectively the gametes have all possible combinations of alleles.
 Law of independent assortment
o Male and female gametes combine at random.
 Use rules of probability to calculate expected phenotype ratios.
 The rule of multiplication
o chance of two (or more)
independent events occurring together
is the product of their chances of
occurring separately.
 Coin flips – odd of getting tail is
½, odds of getting tails when you
flip 2 coins ½ x ½ =¼
 The rule of addition
o Calculates the probability of an event
that can occur in alternate ways

Pedigree analysis
 Genetic traits in humans can be tracked through family
pedigrees
o The inheritance of many human traits
 Follows Mendel’s laws
 Pedigree analysis – Inherited trait is analyzed over the
course of a few generations in one family
 Cystic fibrosis (CF) - example
o Approximately 3% of Americans of European
descent are heterozygous carriers of the
recessive CF allele and phenotypically normal
o Individuals who are homozygous exhibit disease
symptoms

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 Many of the alleles causing human genetic disease are recessive like CF
 Some are dominant like Huntington disease
 Huntington disease has an autosomal inheritance pattern
o Gene on one of 22 pairs of autosomes
o Genes also found on sex chromosomes

Family pedigrees
 Can be used to determine individual genotypes

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BEYOND SIMPLE DOMINANCE

 Other types of gene expression
o Codominant alleles
o Incomplete dominance
o Polygenic
o Epistasis
o Pleiotropy
o Lethal genes

Dominance Relations
 Complete dominance
 Codominance
o Non-identical alleles specify two phenotypes that are both expressed in
heterozygotes
 Incomplete dominance
o Heterozygote phenotype is somewhere between that of two homozyotes

Codominance
 a relationship among alleles where both alleles contribute (equally expressed) to the
phenotypeof the heterozygote
o Example – Human MN blood group:
 IMIM = Blood type MM (antigen M only)
 IM IN = Blood type MN (antigen M and antigen N)
 IN IN = Blood type NN (antigen N only)
 Multiple-allele traits – three or more alleles that can occupy the same gene locus on
a pair ofhomologous chromosomes
o ABO blood group inheritance has 3 alleles.
 IA = A antigen on red blood cells
 IB = B antigen on red blood cells
 IO or i = neither A or B antigen on red blood cells
o Each person has only 2 of the 3 alleles.
o Both IA and IB are dominant to IO
o IAand IB are codominant – both will be expressed equally in the heterozygote.

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Incomplete dominance
 The two characteristics blend.
 In such a situation, both alleles have the opportunity to express themselves.
o Heterozygote has intermediate phenotype.
o Neither allele is dominant
o Ex: Four-o’clock flowers/ Snapdragon
flowers
 Red, pink and white
 50% of normal protein not enough to
give red color
 NOT blending inheritance – pink
flowers can have red, white or pink
offspring.

 Phenylketonuria (PKU)
o Heterozygotes appear phenotypically
normal but heterozygotes have double the
normalphenylalanine levels
 Human wavy hair is intermediate between curly
and straight hair.

Polygenic inheritance
 Trait is governed by 2 or more sets of alleles.
 Each dominant allele has a quantitative effect on phenotype and effects are additive.
 Result in continuous variation – bell-shaped curve
 Multifactorial traits – polygenic traits subject to
environmental effects
o Cleft lip, diabetes, schizophrenia, allergies,
cancer
o Due to combined action of many genes
plus environmental influences

 Environment and the phenotype

o Relative importance of each can vary.
o Temperature can effect coat color.
 Rabbits homozygous for ch have
black fur where the skin temperature is low.
 Enzyme encoded by gene is active only at low temperatures.

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Epistasis
 Interacting products of one or more genes affect the same trait

 Phenotypic expression of one gene is influenced by another gene.

o Example: Coat color in Labrador retrievers
 Allele B (black) dominant to b (brown)
 Allele E (pigment deposition) is dominant to e (no pigment
deposition—yellow).

Pleiotropy
 A single allele can have multiple phenotypic effects: Pleiotropic
 Example: Allele for coloration pattern in Siamese cats; the same allele
results in crossed eyes—both result from the same protein.
 Classic example is the effects of the mutant allele at the beta-globin
locus that gives rise to sickle-cell anemia
 Marfan syndrome is due to production of abnormal connective tissue.

Lethal genes
 Lethal genes – a mutant gene that results in death of the organisms. The gene can
be either dominant or recessive.
 Huntington’s disease is a disorder caused by a lethal gene with dominant alleles
 Sickle—cell anaemia is caused by recessive alleles

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SEX CHROMOSOMES AND SEX-LINKED GENES

 Chromosomes determine sex in many species
 In mammals, a male has one X chromosome and
one Y chromosome (XY)and a female has two X
chromosomes (XX)
 The Y chromosome
o Has genes for the development of testes
o Y carries SRY gene – determines maleness.
 The absence of a Y chromosome
o Allows ovaries to develop
o X is much larger and carries more genes.
 All genes on the sex chromosomes
o Are said to be sex-linked
 In many organisms, the X chromosome carries
many genes unrelated to sex

 Other systems of sex determination exist in other animals and plants

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Sex-linked Inheritance and X-linked alleles

 The inheritance pattern of sex-linked genes is reflected in

females and males
 In Drosophila
o White eye color is a sex-linked trait

 Fruit flies have same sex chromosome pattern as humans.

 When red-eyed female mated white mutant white-eyed male, all offspring were red-
eyed.
 In the F2, the 3:1 ratio was found but all of the white-eyed flies were males.
 Y chromosome does not carry alleles for X-linked traits.
 Males always receive X from female parent, Y from male parent.
 Carrier – female who carries an X-linked trait but does not express it.

Inheritance of Linked Genes

 Some fruit fly crosses violated the law of independent assortment.
o Offspring simply resembled one of the parents.
 Certain genes are linked
o They tend to be inherited together because they reside close together on the
same chromosome
 2 traits on same chromosome – gene linkage
 2 traits on same chromosome do NOT segregate independently.
 Crossing over produces new combinations of alleles
o Crossing over can separate linked alleles
o Producing gametes with recombinant chromosomes

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 Recombination between linked genes

o Linked alleles stay together – heterozygote forms only 2 types of gametes,
produces offspring only with 2 phenotypes.

 Occasionally crossing-over produces new combinations.

o Nonsister chromatids exchange genes.
o Recombinant gametes have a new combination of alleles.

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 Recombination frequencies
o Can be used to map the relative positions of genes on chromosomes.

 Distance between genes

o The closer 2 genes are on a chromosome; the
less likely they are to cross-over.
o You can use the percentage of recombinant
phenotypes to determine the distance
between genes.
o 1% crossing-over = 1 map unit.
o In a black-body and purple-eye cross, 6% of
offspring are recombinant = genes are 6 map
units apart.
o Results can make a chromosome map.

~ END OF NOTES ~

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