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GENETICS

Topic 1. Mendelian Genetics

General Introduction
 Let us look at our planet.
 Millions of living organisms on Earth millions of
species especially in the tropics.
 All organisms are composed of the same basic
functional units cells.
 All organisms possess similar biochemical and
physiological information.
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 Why do organisms differ from each other?


 What causes these differences / variations?

 Even within the same species, theres so


much variation, e.g., guppy (longkang fish).

.
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 Variation yields interesting results.


 No 2 individuals are the same (except identical twins).
 In this course you will also study how and when such
differences occur.

 Sometimes cellular information is disrupted.


 Result: Abnormalities, e.g., albinism, Down syndrome,
fragile X chromosome, progeria (growing old too soon),
haemophilia, trisomy, etc.

What is Genetics?
 The science of heredity that deals with the factors
responsible for similarities and differences in biological
organisms between generations (Elseth and
Baumgardner, 1995).
 Branch of biology concerned with heredity and variation.
 Involves the study of cells, individuals, their offspring
and the populations in which these organisms live.
 Geneticists investigate all forms of inherited variation as
well as the molecular basis underlying such
characteristics.
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Ancient Context of Genetics


 Archeological evidences (primitive art, preserved bones
and skulls, dried seeds, etc.) document the successful
domestication of animals and cultivation of plants
thousands of years ago.
 Human awareness of heredity existed during prehistoric
times.
 Desirable traits were found to be passed down successive
generations.
 More varieties of animals and plants could be selected
early beginnings of artificial selection.
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 Domestication of animals between 8000-1000 BC, horses,


camels, cattle and dogs (derived from the wolf family) were
domesticated and served various roles.
 Domestication of plants at around 5000 BC, maize, wheat, rice
and date palms were thought to have been cultivated from wild
species.

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 From 500-300 BC, there were 2 lines of thoughts:


1. Hippocrates: Male semen was formed in numerous parts
of the body and was transported through blood vessels to
the testicles; active humors acted as the bearers of
hereditary traits and were drawn from various parts of the
body to the semen.
2. Aristotle: Male semen was formed from blood rather than
body parts, and that its generative power was raised in a
vital heat; it generated offspring by cooking and shaping
the menstrual blood produced by the female, which was
the physical substance giving rise to an offspring.
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Modern Context of Genetics


 1600-1900 AD, greater insights into biological basis of life.
 Significant theories and hypotheses:
1. Spontaneous generation of life (Leeuwenhoek) most biologists
believed this until 18th century.
2. Pre-formation entire miniature individual (homunculus) was present
in sperm. This then develops in female womb.
3. Epigenesis (William Harvey) organism is derived from substances
present in egg, which are assembled and differentiated during
embryonic development.
4. Pangenesis (Lamarck) gemmules (small copies of each body
organ) transported by bloodstream to sex organs and assembled into
gametes.
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5. Atomic theory (John Dalton) all matter is composed of small


invisible units called atoms.
6. Cell theory (Matthias Schlieden & Theodor Schwann) all organisms
are composed of basic units called cells.
7. Fixity of species (Carolus Linnaeus).
8. Natural selection (Charles Darwin, Alfred Wallace)
a) Population consists of more offspring than the environment can
support, resulting in a struggle for existence.
b) Organisms with heritable traits that allow them to adapt to the
environment are better able to survive and reproduce.
c) Over a period of time, advantageous variations will accumulate.
d) If a population with these variations become reproductively isolated, a
new species may result.
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9. Transmission of heredity units Gregor Mendel (1822-1884).


Father of Genetics.
a) Hybridization experiments with garden pea resulted in formulation of
2 major principles of inheritance.
b) Demonstrated a number of statistical patterns underlying inheritance.
c) Developed theory involving heredity factors in germ cells to explain
these patterns.
10. Heredity factors = Gene. Term used by W.L. Johannsen (1857-1927)
11. William Bateson coined the term Genetics in 1905.

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Genes Functional Units of Heredity &


Variation
 Where is the centre of heredity?
a) Eukaryotes genetic material in nucleus.
b) Prokaryotes genetic material in unenclosed region called
nucleoid.
c) Virus genetic material ensheathed in protein coat called
capsid or viral head.
 What are the types of genetic material?
a) Eukaryotes and prokaryotes DNA serves as molecule to store
genetic information.
b) Viruses DNA or RNA serves as molecule that stores genetic
data.
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 Nucleic acids, carbohydrates, lipids and


proteins 4 major classes of organic
biomolecules in all organisms.
 DNA = deoxyribonucleic acid
 RNA = ribonucleic acid
 DNA is usually a double-stranded
molecule organized as a double helix.
 Each DNA molecule contains many
hereditary units called genes, which
make up the chromosome.
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Definition of Gene
 In the simplest term, gene = functional unit of heredity.
 In chemical terms, gene = linear array of nucleotides, the
chemical building blocks of DNA and RNA.
 Using a conceptual approach, gene = informational
storage unit capable of undergoing replication, mutation
and expression.
 As research methodologies progress, the gene has been
found to be a very complex element.
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Genes = the Blueprint of Life


 Genes = storage bank of all necessary information for
basic living functions such as metabolism, growth and
reproduction.
 Genes [transcription] RNAs [translation]
proteins.

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Impact of Genes on Society


 Agriculture selective breeding and
hybridization techniques.
a) Animals artificial insemination in cattle and
pigs. Develop superior breeds.
b) Plants enhance potential for vigorous growth,
increase yield, protein quality, resistance to
predators and pests by cross-breeding
(hybridizing) 2 different strains or species.
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Conventional animal and plant breeding programs have


weaknesses:

a) Complicated and time-consuming require many years


and generations of crossing and back-crossing to
produce desired combination of characteristics.
b) Only closely related species can be crossbred to prevent
sterile offspring.
c) Limited possibilities only existing characteristics can be
enhanced.
d) Too slow dependent on length of life cycle of organism
to produce new generation.
e) Selection of desirable characteristics may lead to
selection of undesirable ones.
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Genetic Engineering new tools became available in


the last 2 decades. Allow modifications of the genetic
constitution of animals and plants using genes from
different species. E.g.,

a) Flavr Savr tomato ripening is slowed to prolong shelf


life.
b) Strawberries contain anti-freeze gene allow cultivation
during winter.
c) Salmon, chicken faster growth, higher quality meat and
increased no. of eggs.


Questions raised about safety of genetically modified


(GM) plants and animals used for food.

Success or failure of GM food determined by consumers.


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 Possibility of Dolly
and other cloned
animals being used
for therapeutics and
organ production.
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 GM Bt cotton and corn with


insect-resistance genes that
kill the monarch butterfly.
 Transgenic soyabean with
antibiotic-resistance gene
that could be transferred to
wild plants through
pollination.
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 Healthcare numerous human disorders result


from single mutation or chromosomal
abnormality. E.g.,
a) Haemophilia, sickle-cell anaemia, muscular
dystrophy, Down syndrome, etc.
b) Most, if not all, forms of cancer have a genetic
basis.
 Recognition of genetic basis of these disorders
results in development of early detection
techniques, efficient treatments, genetic
counselling and immunogenetics.
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 Advances in recombinant technology:


a) Cloned genes code for medically important
molecules, e.g., insulin and growth hormone.
b) Gene therapy direct manipulation of genetic
material. Alter the genetic constitution individuals
with genetic defects, cancer or other disabilities.
c) Production of recombinant drugs.
d) DNA vaccines.
e) DNA chips for personal identity?
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2 major ethical issues to be considered in Genetics:

a) Should we improve our genome?


b) Should we design our babies?

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Common Terminologies
 Genes = units of information about specific traits. Passed
from parents to offspring. Found on a specific location on
a chromosome.
 Locus (pl. loci) = fixed position on a chromosome that is
occupied by a gene or one of its alleles.
 Alleles = 2 genes of a particular gene pair. Allelic genes
occur at a given locus in a chromosome. Capital letter for
dominant gene (e.g., A). Small letter for recessive gene
(e.g., a).
 Dominance = 1 member of an allelic pair that has the
ability to manifest itself at the exclusion of the other allele.
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 Recessive = 1 member of an allelic pair that lacks the


ability to manifest itself when the dominant member is
present.
 Homozygote (adj. homozygous) = individual that carries
identical alleles. AA = dominant homozygote, aa =
recessive homozygote.
 Heterozygote (adj. heterozygous) = individual carries
non-identical alleles, Aa.
 Phenotype = characteristics / traits of an individual that
are observable, e.g., tallness in garden peas, colour
blindness in humans.
 Genotype = genetic constitution (genetic makeup) of an
individual. Refers to particular alleles of an individual.
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 True-breeding lineage = offspring of genetic crosses that


inherit a pair of identical alleles for a trait, generation after
generation.
 Hybrid offspring = offspring of genetic crosses that
inherit a pair of non-identical alleles for a trait.
 When tracking the inheritance of traits through
generations of offspring, apply these abbreviations:
P = parental generation
F1 = first-generation offspring (progeny)
F2 = second-generation offspring
F = filial generation
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Principles of Inheritance
Gregor Johann Mendel (1822-1884)
 Monk in St. Thomas monastery in Brno, Vienna. Wide interests
from religion to botany and mathematics.
 In 1866, published the results of a series of experiments that
laid the foundation of Genetics.
 In the following years and early 20th century, concept of the
gene as a distinct heredity unit was established, and methods
by which genes, that control certain traits, are transmitted from
parents to offspring were clarified.
 Principles established by Mendel are now known as Mendelian
or Transmission Genetics.
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Mendels Experiments


Chose garden pea (Pisum sativum)


to test his ideas about inheritance.
WHY?

a) Well-defined characteristics.
b) Pure-bred varieties are available.
c) Hermaphroditic flower both male
and female. Self-fertilization in
nature but easy to cross-breed in
experiments.
d) Reproduces well and grows to
maturity in a season.
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Mendels Experimental Design




Worked with 7 visible characters


that were each represented by 2
contrasting forms / traits:

a) Seed shape
b) Seed colour
c) Pod shape
d) Pod colour
e) Flower colour
f)

Flower position / pod arrangement

g) Stem height / length


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 Restricted examination to only 1 or very few pairs of


contrasting traits in each experiment.
 Kept quantitative records a necessity in genetic
experiments.
 Derived certain postulates that became the principles of
transmission genetics.
 Nobody appreciated Mendels work until after his death,
i.e., at the turn of the 20th century.
 Findings discovered by geneticists investigating the
function and behaviour of chromosomes.
 Importance of Mendels discovery = basis for the
transmission of hereditary traits.
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Monohybrid Cross
 Mendels idea: in every generation, a
plant might inherit 2 units (now
called genes) of information about a
trait, one from each parent.
 Used monohybrid crosses to test
his idea.
 For such crosses, 2 parents that
breed true for different forms of a trait
produce F1 offspring that are all
heterozygous (AA aa  Aa).
 Mendels actual experiment was an
intercross between two of the F1
heterozygotes, i.e., Aa Aa  AA,
2Aa, aa (F2 ratio = 3:1)
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Mendel tracked many traits


over 2 generations.

Example: true-breeding purple


flowered plants truebreeding white flowered ones
 all plants in the F1
generation had purple flowers.

Mendel allowed the F1 plants


to self-fertilize, i.e., F1 F1 
some F2 offspring produced
white flowers while the rest
were purple.
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Modern rationale of Mendels thinking:

a) Germ cells of pea plants are diploid with pairs of


homologous chromosomes.
b) For flower colour, 1 parent must be homozygous
dominant (AA) while the other homozygous recessive
(aa).
c) Purple colour must be dominant because it is expressed
in all F1 offspring, is similar to one parent, and masked
the recessive white colour.
d) Following meiosis, a sperm or egg carries 1 allele for
flower colour. When sperm fertilizes an egg, there is only
1 outcome, A + a = Aa.
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Mendel crossed hundreds of plants and tracked


thousands of offspring to prevent sampling error.

Mendel counted and recorded the no. of dominant and


recessive plants at every generation.

On average, he found that 3 of every 4 F2 plants showed


the dominant phenotype while only 1 had the recessive
phenotype.

Average dominant-to-recessive ratio among F2 plants


of monohybrid crosses = 3:1.

To Mendel, the ratio suggested: fertilization is a chance


event with a no. of possible outcomes.

Probability allows prediction of possible outcomes of


genetic crosses.

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 Other conclusions of Mendels experiment:


a) It does not matter which plant is the source of
pollen or ovum, the outcome remained the same.
b) Since the crosses could be made either way,
these are called reciprocal crosses.
c) Results of Mendels monohybrid crosses are not
sex-dependent.

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Punnett Square


Genotypes and phenotypes resulting from the recombination of


gametes during fertilization can be visualized by constructing a
Punnett square.

If half of a plants sperm or eggs are A and the other half are a,
there are 4 possible outcomes each time a sperm fertilizes an egg.

If an F2 plant has 3/4 chance of getting at least 1 dominant allele


(purple flowers), then it has 1/4 chance of getting 2 recessive
alleles (white flowers).

Probable phenotypic ratio = 3 purple : 1 white, or 3 : 1.

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 Using a Punnett square:


a) Each of the possible gametes is assigned to an individual
column or a row, e.g., vertical column for male gametes
and horizontal row for female gametes.
b) New generation is predicted by combining the male and
female gametic information for each combination and
entering the resulting genotypes in the boxes. This
process represents all possible random fertilization
events.
c) Genotypes and phenotypes of all potential offspring are
ascertained by reading the entries in the boxes. Thus, the
phenotypic and genotypic ratios may be easily derived in
the F2 generation. E.g., 3 purple : 1 white, and 1AA : 2Aa
: 1aa.
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Test Crosses


Is there a way to distinguish the genotype AA from Aa,


and DD from Dd? Answer = YES!

Mendel devised a simple method called the test cross


where an organism of dominant phenotype but unknown
genotype is crossed with a homozygous recessive
(important requirement!) individual.

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Example 1: if a tall plant of genotype DD is test-crossed


to a dwarf plant (dd),

a) All F1 offspring will be tall phenotypically and Dd


genotypically.
b) Therefore, all tall offspring demonstrate that the tall plant
of unknown genotype is homozygous dominant.


Example 2: if a tall plant is Dd and test-crossed to a


dwarf plant (dd),

a) Half of the offspring will be tall (Dd) while the other half
dwarf (dd).
b) Thus, a 1:1 tall:dwarf ratio shows that the tall plant of
unknown genotype is heterozygous dominant.
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Mendels Postulates on Inheritance


I. Unit factors in pairs genetic characters are
controlled by unit factors that exist in pairs in an
individual.


In a monohybrid cross, a specific unit factor exists for each


trait, e.g., purple and white flowers, tall and dwarf stems.

If these factors appear in pairs, 3 combinations are possible:


2 factors for purple flower (AA) or tall stem (DD)
2 factors for white flower (aa) or dwarfness (dd)
1 of each factor, Aa or Dd

Each individual will contain 1 of the 3 combinations.


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II. Dominance / Recessiveness when 2 unlike unit


factors responsible for a single character are present in
a single individual, one unit factor is dominant to the
other, which is said to be recessive.


In a monohybrid cross, the trait expressed in the F1


generation results from the presence of the dominant unit
factor. E.g.,
Aa = purple flower (purple gene dominant over white gene)
Dd = tall stem (tall gene dominant over dwarf gene)

Trait which reappears in the F2 generation is under influence


of the recessive unit factor. E.g.,
aa = white flower, dd = dwarf

Dominance and recessiveness are applicable only when


unlike unit factors are present together in an individual.

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III. Random Segregation during gamete formation, the


paired unit factors separate / segregate randomly so
that each gamete receives one or the other with equal
likelihood. Inheritance of any allele is a matter of
chance.


In a monohybrid cross, if an individual carries a pair of like


unit factors, then all gametes receive 1 unit factor. E.g.,
AA specifies purple flower, each gamete will have 1 A
DD specifies tall stem, each gamete will have 1 D

If an individual contains unlike unit factors, each gamete


has 50% probability of receiving either unit factor. E.g.,
Aa individual will have A and a gametes
Dd individual will have D and d gametes

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Dihybrid Cross

To demonstrate how 2 pairs of contrasting traits are assorted


into gametes, Mendel used a 2-factor cross or dihybrid
cross.

In such crosses, individuals that breed true for 2 different


traits produce F1 offspring that are all identically heterozygous for both traits.

As Mendel would have predicted, the F1 offspring from this


cross are all purple-flowered and tall (AaBb).

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When these F1 plants are selfed or reproduce, how will the 2


gene pairs be assorted into gametes?

Assume 1 pair of chromosomes carry the Aa alleles and a


different pair carry the Bb.

All chromosomes become positioned at the spindle equator


during metaphase I of meiosis.

Chromosome with A allele might move to either spindle pole


and into 1 of 4 gametes. Its homologue with a allele might act
similarly.

The same can happen to the homologous chromosomes that


carry the B and b alleles.

After meiosis and gamete formation, 4 combinations of alleles


are possible in sperm or eggs:
1/4 AB, 1/4 Ab, 1/4 aB and 1/4 ab

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 Several allelic combinations are possible at fertilization.


 4 kinds of sperm 4 types of eggs = 16 possible combinations
of gametes in the F2 offspring of a dihybrid cross.
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 Example 1

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Use Punnett square method to diagram all the possibilities


when F1 offspring are selfed.

Add up all the phenotypes to give the following:


9/16 tall purple-flowered,
3/16 dwarf purple-flowered
3/16 tall white-flowered
1/16 dwarf white-flowered

This would give a probable phenotypic ratio of 9:3:3:1 for a


dihybrid cross (or two 3:1 ratios).

F1 and F2 results would remain unchanged if AAbb aaBB.

Dihybrid cross = 2 monohybrid crosses conducted separately,


with 2 sets of traits being inherited independently of each other
(Punnett square with 16 boxes).
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 Example 2

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 Reference to Example 2, if we look at the inheritance of


individual traits,
Ratio of dihybrid cross = 9:3:3:1
Ratio yellow:green = 3:1
Ratio round:wrinkled = 3:1
 Frequencies of all possible F2 phenotypes can be predicted by
applying the Product Law of Probabilities:
When 2 independent events occur simultaneously, the
combined probability of the 2 outcomes = product of their
individual probabilities of occurrence.

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The probability of an F2 plant having:


Yellow & round seeds = 3/4 3/4 = 9/16
Yellow & wrinkled seeds = 3/4 1/4 = 3/16
Green & round seeds = 1/4 3/4 = 3/16
Green & wrinkled seeds = 1/4 1/4 = 1/16

Based on similar results in numerous dihybrid crosses, Mendel


proposed a 4th postulate,

IV. Independent Assortment during gamete formation,


segregating pairs of unit factors assort independently of
each other.


In a dihybrid cross,
For 1 pair, whichever factor is received does not influence the
outcome of segregation of any other pair.
All possible combinations of gametes will be formed in equal
frequency.

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Is there a way to distinguish the genotype among GGWW,


GgWW, GGWw and GgWw (or AABB, AaBB, AABb and
AaBb)?
Answer = YES!
Use test cross by crossing with the homozygous recessive
ggww or aabb.
Analysis of the offspring will indicate the correct genotype.

Conclusion: the 9:3:3:1 ratio is based on probability events


involving segregation, independent assortment and random
fertilization.

Deviation from this ratio may occur due to chance, especially


when small numbers of offspring are produced.
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Trihybrid Cross

 Mendel demonstrated that segregation and independent


assortment apply also to 3 pairs of contrasting traits, i.e.,
trihybrid cross or 3-factor cross.
 Complex, but results are easily calculated if principles of
segregation and independent assortment are followed.

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In the cross between AABBCC and aabbcc individuals,


all F1 offspring are heterozygous for all 3 gene pairs.

Their genotype, AaBbCc, results in phenotypic


expression of the dominant A, B and C traits.

8 different gametes are produced in equal frequencies


by F1 individuals that serve as parents.

Constructing a Punnett square with 64 boxes would be


too cumbersome for a trihybrid cross.

Forked-line method or branch diagram each


contrasting trait is considered separately and the results
are combined according to the laws of probability.
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The F2 generation consists of individuals with the A_


and aa phenotype in the ratio of 3:1.

Same generalization can be used for B and C.

In the F2 generation, 3/4 of all organisms express


phenotype A, 3/4 express B and 3/4 C.

Similarly, 1/4 of all organisms express phenotype a, 1/4


b and 1/4 c.

The proportions of organisms that express each


phenotypic combination can be predicted by assuming
that fertilization, following independent assortment of
these 3 gene pairs during gamete formation, is a
random process.
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Applying the product law of probabilities and forked-line


method, the phenotypic proportions of a trihybrid cross
= 27:9:9:9:3:3:3:1.

8 phenotypes: 2 parentals (ABC, abc) and 6


recombinants (ABc, AbC, Abc, aBC, aBc, abC)

Same method can be used to solve crosses involving


any number of gene pairs.

1 requirement: all gene pairs must assort independently


from each other.

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Chi-Square Test
 For evaluating genetic data and predicted cross
ratios.
 Mendels 3:1, 9:3:3:1 and 27:9:9:9:3:3:3:1 are
hypothetical predictions based on the following
assumptions:
a) Each allele is dominant or recessive.
b) Random segregation is operative.
c) Independent assortment occurs.
d) Random fertilization occurs.
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 The last 3 assumptions are influenced by


chance events, and are thus subjected to
random fluctuation.
 This concept is called chance deviation.
 As sample size increases, average deviation
from expected ratio decreases proportionally.
 Larger sample size diminishes impact of chance
deviation on the final outcome.
 Important in genetics to be able to evaluate the
observed deviation.
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Null Hypothesis


When we assume that data will fit a given ratio, e.g.,


3:1, 1:1, 9:3:3:1 or 27:9:9:9:3:3:3:1, we establish the
null hypothesis (H0).

Null hypothesis assumes that there is no real difference


between the observed values and the predicted values.

Any differences can be attributed purely to chance.

Evaluation of null hypothesis is carried out by statistical


analysis.

The opposite of the null hypothesis is the alternative


hypothesis (H1).
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On the basis of statistical analysis, the null hypothesis


may either

a) be rejected, or
b) fail to be rejected (accepted)


If H0 is rejected, the observed deviation from the


expected is NOT attributed to chance alone.

Thus, the null hypothesis and the underlying


assumptions leading to it must be re-examined.

If H0 fails to be rejected (is accepted), any observed


deviation can be attributed to chance.
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Analysing Genetic Data




Statistical analysis provides a mathematical basis for


examining how well observed data fit / differ from
predicted (expected) occurrences.

This leads to the testing for goodness-of-fit.

Question: if the data do not fit exactly, how much


deviation should be allowed before the null hypothesis
can be rejected?

The simplest statistical test to assess goodness-of-fit of


2).
the null hypothesis is the chi-square test (

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This test takes into account the observed deviation in each


component of an expected ratio, the sample size, and
reduces them into a single numerical value.

The chi-square (2) value is then used to estimate how


frequently the observed deviation can be expected to occur
strictly as a result of chance.

The formula used in chi-square analysis:

2 = (O E)2/E
O is the observed value for a given category
E is the expected value for that category
(sigma) represents the sum of calculated values for
each category of the ratio


(O E) is the deviation (d) in each case.


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Interpreting the 2 Value


1. Determine the degrees of freedom (df).
a) Degrees of freedom must be taken into account
because the greater the # of categories, the more
deviation is expected as a result of chance.
b) df = n 1, where n is the # of different categories.
E.g., for the 3:1 ratio, plants can have 1 out of 2
phenotypes. Since n = 2, df = 2 1 = 1.
E.g., for the 9:3:3:1 ratio, plants can have 3 out of 4
phenotypes. Since n = 4, df = 4 1 = 3.
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2. Determine the corresponding probability value (p).


a) Calculation is complex.
b) p value is located on a table / graph.
c) What does the p value mean?
Shows that a hypothesis is never proved or disproved
absolutely.
A relative standard must be set to serve as the basis for
rejecting, or failing to reject (accept) the null hypothesis.
The standard is often a p value of 0.05 (or 5%). It is
also called a 95% confidence limit.
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3. p Value
a) If p < 0.05, it indicates that there is a great
difference between the observed and predicted
results. Serves as basis to reject the null
hypothesis.
b) If p > 0.05, the probability of the observed
deviation being due to chance is 5% or more.
Conclusion is to accept or not to reject the null
hypothesis.

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Observed Expected
Genotype
(O)
(E)
Tall (T_)
Short (tt)
Total =



(O E)

(O E)2

(O E)2/E

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3/4 50 =
37.5

7.5

56.25

1.5

20

1/4 50 =
12.5

7.5

56.25

4.5

50

50

2 =

6.0*

H0: observed ratio fits expected ratio of 3:1 (monohybrid cross)


H1: observed ratio does not fit expected ratio of 3:1
In this example, calculated 2 = 6.0 for df = 2 1 = 1.
This would convert to a p value of between 0.05 and 0.01 [refer to
yellow circle in table (b) of slide #75].
Since 2 value of 6.0 is closer to 6.64, p is closer to 0.01 and <
0.05. Thus we reject H0.

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H0: observed ratio fits expected ratio of 9:3:3:1


H1: observed ratio does not fit expected ratio of 9:3:3:1
In this example (red circle), calculated 2 = 4.16.
Probability level () is 0.05 or at 95% confidence limit.
Degrees of freedom, = df = 4 1 = 3 (for dihybrid cross).
Theoretical (tabulated) 2[] = 7.82 [refer to table in slide #75].
Since calculated 2 is < theoretical 2, H0 is accepted.
(H0 is rejected when calculated 2 is > tabulated 2)

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 Other assumptions besides random segregation,


independent assortment and random fertilization:
a) Viability of all gametes is equal irrespective of
genotype. All gametes are equally likely to
participate in fertilization.
b) Following fertilization, all pre-adult stages and
adult offspring are equally viable, regardless of
genotype.

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