TON DUC THANG UNIVERSITY

FACULTY OF APPLIED SCIENCES

Department of Biotechnology

GENETICS (603062)

CHAPTER 2
Mendelian Inheritance
 OUTLINE

I. Mendel's principles
1. Mendel’s experiments
2. Monohybrid crosses
3. Dihybrid crosses
4. Applications
5. Inherited Diseases
II. Extensions of Mendelism
1. Allelic Variation & Gene function
2. Gene Action

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 I. Mendel’s Principles

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 1. Mendel’s experiments
• Born in Moravia
• At the age of 21, Mendel left the farm and
entered a Catholic monastery in the city of
Brünn (today, Brno in the Czech Republic)
• 1847, he was ordained a priest, adopting the
clerical name Gregor.
• 1851-1853, study at the University of Vienna.
• After returning to Brünn, he resumed his life
as a teaching monk and began the genetic
experiments that eventually made him
famous.
• 1865, presented his results before the local
Gregor Johann Mendel Natural History Society, and the following
(1822-1884) year, he published a detailed report in the
society’s proceedings

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 1. Mendel’s experiments

• One reason for Mendel’s success is

that he chose his experimental
material astutely.
• The garden pea, Pisum sativum, is
easily grown in experimental
gardens or in pots in a greenhouse.
• Pea flowers contain both male and
female organs.
• The male organs –anthers: produce
sperm-containing pollen,
• The female organ – ovary: produces
eggs

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 2. Monohybrid crosses

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Symbolic representation of the
cross between tall and dwarf
peas

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 2. Monohybrid crosses
1. The Principle of Dominance:
In a heterozygote, one allele may conceal the presence of
another
(This principle is a statement about genetic function. Some alleles evidently
control the phenotype even when they are present in a single copy)

2. The Principle of Segregation:

In a heterozygote, two different alleles segregate from each other
during the formation of gametes.
(This principle is a statement about genetic transmission. An allele is
transmitted faithfully to the next generation, even if it was present with a different
allele in a heterozygote. The biological basis for this phenomenon is the pairing
and subsequent separation of homologous chromosomes during meiosis )
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3. Dihybrid crosses

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 3. Dihybrid crosses

3. The Principle of Independent Assortment:

The alleles of different genes segregate, or as we
sometimes say, assort, independently of each other.

(This principle is another rule of genetic transmission, based on the

behavior of different pairs of chromosomes during meiosis )

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 Testing your knowledge
An inherited factor (encoded in the DNA) that helps determine a
1 characteristic

2 One of two or more alternative forms of a gene

3 Specific place on a chromosome occupied by an allele

4 Set of alleles possessed by an individual organism

5 An individual organism possessing two different alleles at a locus

6 The appearance or manifestation of a characteristic

7 The appearance or manifestation of a characteristic

8 An attribute or feature possessed by an organism

9 Cross between an F1 individual and one of the parental (P) genotypes

Refers to an allele or phenotype that is expressed only in homozygotes (aa); the

10 recessive allele is not expressed in a heterozygote (Aa) phenotype
Refers to an allele or a phenotype that is expressed in homozygotes (AA) and in
11 heterozygotes (Aa); only the dominant allele is expressed in a heterozygote
phenotype
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 Testing your knowledge
An inherited factor (encoded in the DNA) that helps determine a
Gene characteristic

Allele One of two or more alternative forms of a gene

Locus Specific place on a chromosome occupied by an allele

Genotype Set of alleles possessed by an individual organism

Heterozygote An individual organism possessing two different alleles at a locus

Homozygotes The appearance or manifestation of a characteristic

Phenotype or trait The appearance or manifestation of a characteristic

Characteristic or An attribute or feature possessed by an organism

character
Backcross Cross between an F1 individual and one of the parental (P) genotypes

Refers to an allele or phenotype that is expressed only in homozygotes (aa); the

Recessive recessive allele is not expressed in a heterozygote (Aa) phenotype
Refers to an allele or a phenotype that is expressed in homozygotes (AA) and in
Dominant heterozygotes (Aa); only the dominant allele is expressed in a heterozygote
phenotype
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 4. Applications

1. The Punnett square method

- Predict the zygotic output of intercrosses (F1 hybrids)

Progeny:

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 4. Applications
2. The Forked-line method
- Predict the outcome of an intercrosses
- Combine these separate ratios into an overall phenotypic ratio
for the offspring of the cross

The forked-line method for predicting the outcome of an intercross involving three
independently assorting genes in peas.
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 4. Applications
2. The Forked-line method
• Analyze the results of a cross between multiply heterozygous
individuals and multiply homozygous individuals - testcross

The forked-line method for predicting the outcome of a testcross involving three independently
assorting genes in peas.
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 4. Applications

3. The probability method

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 The Chi-Square test

Applications

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 The Chi-Square test

The 2 statistic allows a researcher to compare data with their predicted

values:
- If the data are not in line with the predicted values, the 2 statistic will
exceed a critical number and we will decide either to reevaluate the
experiment— look for a mistake in technique or reject the underlying
hypothesis.
- If the 2 statistic is below this number : conclude that the results of the
experiment are consistent with the predictions of the hypothesis.

The 2 statistic reduces hypothesis testing to a simple, objective procedure.

 the 2 testing procedure leads us to a decision about the fate of the
hypothesis
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 The Chi-Square test

Statisticians have tabulated

critical values according to the
degrees of freedom
associated with the 2 statistic

This index to the set of 2

distributions is determined by
subtracting one from the
number of phenotypic classes.

Ex: there are 4 - 1 = 3 degrees of freedom.

The critical value for the 2 distribution with 3 degrees of freedom is 7.815
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5. Inherited Diseases
Pedigrees
Genetic counseling

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 Dominant traits

Neurofibromatosis

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 Recessive traits

Duchenne muscular dystrophy

(loạn dưỡng cơ)

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 Exercises

1. Two highly inbred strains of mice, one with black fur and the
other with gray fur, were crossed, and all of the offspring had
black fur. Predict the outcome of intercrossing the offspring.
2. A plant heterozygous for three independently assorting
genes, Aa Bb Cc, is self-fertilized. Among the offspring,
predict the frequency of:
(a) AA BB CC individuals,
(b) aa bb cc individuals,
(c) individuals that are either AA BB CC or aa bb cc,
(d) Aa Bb Cc individuals,
(e) individuals that are not heterozygous for all three genes.

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 Exercises

3. Two true-breeding strains of peas, one with tall vines

and violet flowers and the other with dwarf vines and
white flowers, were crossed. All the F1 plants were tall
and produced violet flowers. When these plants were
backcrossed to the dwarf, white parent strain, the
following offspring were obtained: 53 tall, violet; 48 tall,
white; 47 dwarf, violet; 52 dwarf, white.
Do the genes that control vine length and flower color
assort independently?

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 Exercises
4. Mice from wild populations typically have gray-brown (or
agouti) fur, but in one laboratory strain, some of the mice
have yellow fur. A single yellow male is mated to several
agouti females. Altogether, the matings produce 40 progeny,
22 with agouti fur and 18 with yellow fur. The agouti F1
animals are then intercrossed with each other to produce an
F2, all of which are agouti.
Similarly, the yellow F1 animals are intercrossed with each
other, but their F2 progeny segregate into two classes; 30 are
agouti and 54 are yellow. Subsequent crosses between yellow
F2 animals also segregate yellow and agouti progeny.
What is the genetic basis of these coat color differences?

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 II. Extensions of
Mendelism

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 1. Allelic Variation & Gene function
The diverse kinds of alleles of genes affect phenotypes
in different ways

• Genes often have multiple alleles.

• Mutant alleles may be dominant, recessive, incompletely
dominant, or codominant.
• If a hybrid that inherited a recessive mutation from each of its
parents has a mutant phenotype, then the recessive mutations are
alleles of the same gene; if the hybrid has a wild phenotype, then
the recessive mutations are alleles of different genes.
• Most genes encode polypeptides.
• In homozygous condition, recessive mutations often abolish or
diminish polypeptide activity.
• Some dominant mutations produce a polypeptide that interferes
with the activity of the polypeptide encoded by the wild-type allele
of a gene.
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 1. Allelic Variation & Gene function
 Incomplete dominance and codominance
- An allele is dominant if it has the same phenotypic effect in
heterozygotes as in homozygotes—that is, the genotypes Aa
and AA are phenotypically indistinguishable.
- When the heterozygote’s phenotype is midway between the
phenotypes of the two homozygotes - the partially dominant
allele is sometimes said to be semidominant

Ex: Genetic basis of flower color in snapdragons.

The allele W is incompletely dominant over w.
Differences among the phenotypes could be due
to differences in the amount of the product
specified by the W allele

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 1. Allelic Variation & Gene function

 Incomplete dominance and codominance (cont)

- Codominant : the two alleles appear to contribute
independently to the phenotype of the heterozygotes. Neither
allele is dominant, or even partially dominant, over the other.

Ex: human blood types

Detection of the M and N antigens
on blood cells by agglutination with
specific anti-sera. With the anti-M
and anti-N sera, three blood types
can be identified
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 1. Allelic Variation & Gene function

 Multiple alleles

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 1. Allelic Variation & Gene function

 Multiple alleles
Ex: Coat colors in rabbits.
The different phenotypes are
caused by four different alleles
of the c gene

The other alleles of the c gene

are mutants—altered forms of
the wildtype allele that must
have arisen sometime during the
evolution of the rabbit

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 1. Allelic Variation & Gene function

 Allelic series
- making heterozygous combinations
through crosses between homozygotes.
- Nonfunctional alleles are said to be null
or amorphic - completely recessive.
- Partially functional alleles are said to be
hypomorphic; they are recessive to
alleles that are more functional,
including (usually) the wild-type allele

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 1. Allelic Variation & Gene function

 Effects of mutations
- Genes are identified by mutations that alter the
phenotype in some conspicuous way - change the
color or shape of the eyes, alter a behavior, or cause
sterility or even death.
- The tremendous variation among the effects of
individual mutations suggests that each organism
carries many different kinds of genes and that each of
these can mutate in different ways.
- In nature, mutations provide the raw material for
evolution

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 1. Allelic Variation & Gene function

 Effects of mutations
- Visible mutations: Mutations that alter some aspect of
morphology, such as seed texture or color ; mostly
recessive
- Sterile mutations: Mutations that limit reproduction;
Some sterile mutations affect both sexes, but most
affect either males or females
- Lethal mutations: Mutations that interfere with
necessary vital functions

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 1. Allelic Variation & Gene function
 Genes function to produce polypeptides
- Each gene specifics a different polypeptides- function to influence the
organism’s phenotype.
- Polypeptides are macromolecules built of a linear chain of amino acids.
Every organism makes thousands of different polypeptides, each
characterized by a specific amino acid sequence.
- These polypeptides are the fundamental constituents of proteins. Two or
more polypeptides may combine to form a protein.
- Some proteins, called enzymes, function as catalysts in biochemical
reactions; others form the structural components of cells; and still others are
responsible for transporting substances within and between cells
- When a gene is mutated, its polypeptide product either is not made or is
altered in such a way that its role in the organism is changed.
- Mutations that eliminate or alter a polypeptide are often associated with a
phenotypic effect
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 1. Allelic Variation & Gene function
• Why are some mutations dominant and others recessive?

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Polypeptide products ofGenetics
recessive and dominant mutations
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 1. Allelic Variation & Gene function
• Why are some mutations dominant and others recessive?

Phenotypes of heterozygotes carrying a wild-type

3/2/2022 allele and different types
Genetics of mutant alleles.
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 2. Gene Action

• Gene action is affected by biological and physical factors

in the environment.
• Two or more genes may influence a trait.
• A mutant allele is epistatic to a mutant allele of another
gene if it has an overriding effect on
the phenotype.
• A gene is pleiotropic if it influences many different
phenotypes.

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 Epistasis

Comb shapes in chickens of different breeds.

(a) Rose, Wyandottes; (b) pea, Brahmas; (c) walnut,
hybrid from cross between chickens with rose and
pea combs; (d) single, Leghorns

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 PENETRANCE AND EXPRESSIVITY
• When individuals do not show a trait even though they
have the appropriate genotype, the trait is said to exhibit
incomplete penetrance.
Example in humans is polydactyly—the presence of extra fingers
and toes
• The term expressivity is used if a trait is not manifested
uniformly among the individuals that show it
Example: The dominant Lobe eye mutation in Drosophila

Polydactyly in humans

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 Exercise
1. Flower color in a garden plant is under the control of a
gene with multiple alleles. The phenotypes of the
homozygotes and heterozygotes of this gene are as follows:

Arrange the alleles in a dominance hierarchy

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 Exercise
2. From information in the chapter about the ABO blood
types, what phenotypes and ratios are expected from the
following matings: (a) IAIA IBIB; (b) IAIB ii; (c) IAi IBi;
and (d) IAi ii?

3. A woman with type O blood gave birth to a baby, also

with type O blood. The woman stated that a man with
type AB blood was the father of the baby. Is there any
merit to her statement?

4. Another woman with type AB blood gave birth to a baby

with type B blood. Two different men claim to be the father.
One has type A blood, the other type B blood. Can the
genetic evidence decide in favor of either?
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