Chapter 2

Transmission
Genetics: Heritage
from Mendel
 Gregor Mendel
• G. Mendel carried out his experiments from
1856 to 1863 in a small garden plot nestled in a
corner of the St. Thomas monastery in the town
of Brno.
• He published the results and his interpretation
in its scientific journal in 1866.
• Mendel’s paper contains the first clear
exposition of the statistical rules governing the
transmission of hereditary elements from
generation to generation.
 Mendel’s Genetic Hypothesis
• Each parent contributes to its progeny distinct
elements of heredity = factors = genes.
• Factors remain unchanged as they pass
through generations.
• Mendel thought in quantitative, numerical terms.
He looked for statistical regularities in the
outcome from his crosses.
 Mendel’s Experiments
(1 of 2)

• Experimental organism: garden pea, Pisum

sativum
• Advantages: many known varieties with
different alternative traits, self-fertilization, easy
artificial fertilization
• True-breeding varieties = self-fertilized plants
produce only progeny like themselves
 Mendel’s Experiments
(2 of 2)

• In a cross of two true-breeding plants with

different forms of a trait, such as round and
wrinkled seeds, all of the F1 progeny exhibited
only one parental trait (round seeds).
• In F2 generation obtained by self-fertilization of
F1 plants, the observed ratio of visible traits was
3 round : 1 wrinkled.
• Outcome of a cross was independent of whether
the trait came from the male or female parent:
reciprocal crosses produced the same result.
 Mendel’s Hypothesis
• Each true-breeding parent has two identical
copies of the genetic information specifying the
trait = homozygous.
• Each gamete contains only one copy of a
hereditary factor specifying each trait.
• Random fertilization unites two copies of the
gene in the progeny.
• F1 progeny contains different variants (alleles)
of the gene = heterozygous.
 Some Definitions
• Genotype: The genetic constitution of an
organism
• Phenotype: The observable properties of an
organism
• In the cross between round and wrinkled seed
pea plants:
– Round seed parent has two identical copies of
genetic information; its genotype is AA.
– The genotype of a wrinkled seed parent is aa.
 Dominance
• Round seed parent contributes A gamete to
offspring.
• Wrinkled seed parent contributes a gamete to
offspring.
• Offspring genotype (Aa) contains one copy of A
and one copy of a.
• All offspring produce round seeds although their
genotype is Aa because A is dominant and a is
recessive.
Round vs. Wrinkled: Modern Context
(1 of 5)

• The gene that determines the shape of a seed

encodes an enzyme, starch-branching enzyme I
(SBEI), required to synthesize a branched-chain
form of starch known as amylopectin.
• Round (W) seeds contain amylopectin and
shrink uniformly as they dry.
• Wrinkled (w) seeds lack amylopectin and shrink
irregularly.
Round vs. Wrinkled: Modern Context
(2 of 5)

• Wrinkled peas have an inborn error in starch

metabolism.
• The molecular basis of the wrinkled (w)
mutation = SBEI gene is interrupted by the
insertion of a DNA sequence called a
transposable element.
• Transposable elements = DNA sequences
capable of moving (transposition) from one
location to another.
Round vs. Wrinkled: Modern Context
(3 of 5)

• A procedure called gel electrophoresis is used

to separate DNA molecules of different sizes.
• DNA fragment corresponding to the W form of
the SBEI gene moves farther than the w
fragment, because the w fragment is larger
(owing to the insertion of the transposable
element).
Gel Electrophoresis
 Round vs. Wrinkled: Modern Context
(4 of 5)

• Classical geneticists studied primarily

morphological traits = the shape of a seed is
manifestly round or wrinkled.
• Modern geneticists study morphological traits,
too, but they supplement this with molecular
traits = the pattern of bands in a gel.
• Morphological traits are frequently dominant or
recessive, but this is not necessarily true of
molecular traits.
Round vs. Wrinkled: Modern Context
(5 of 5)

• When alternative forms of a gene (W and w)

can both be detected when they are present in
the cell, we say that the forms of the gene are
codominant.
• Molecular traits are often (but by no means
always) codominant.
• Dominance is not an intrinsic feature of a gene;
it rather depends on the method we chose to
examine it.
The Genetics of Mendel’s 3:1 Ratio
 Random Segregation
• When an F1 plant is self-fertilized, the A and a
determinants segregate from one another and
are included in the gametes in equal numbers.
• The gametes produced by segregation come
together in pairs at random to yield the progeny
of the next generation.
• In the F2 generation, the ratio of the progeny
with dominant trait to the progeny with
recessive trait is 3:1. In the case of round and
wrinkled seeds, 3/4 round and 1/4 wrinkled
offspring.
The Principle of Random Segregation

• In the formation of gametes, the paired

hereditary determinants (genes) segregate in
such a way that each gamete is equally likely to
contain either member of the pair.
 Testcross Analysis
• Testcross = a cross between an organism of
dominant phenotype (genotype unknown) and
an organism of recessive phenotype (genotype
known to be homozygous recessive).
• In a testcross, the relative proportion of the
different gametes produced by the
heterozygous parent can be observed directly in
the proportion of phenotypes of the progeny,
because the recessive parent contributes only
recessive alleles.
 There Is a 1:1 Correspondence Between
Genotype and Phenotype in the Progeny of
a Test Cross
 Dihybrid Cross
• Mendel studied inheritance of two different
traits, such as seed color (yellow vs. green) and
seed shape (round vs. wrinkled) in the same
cross = dihybrid cross.
• The F1 progeny were hybrid for both
characteristics, and the phenotype of the seeds
was round (dominant to wrinkled) and yellow
(dominant to green).
• In the F2 progeny, he observed the 9 round
yellow : 3 wrinkled yellow : 3 round green : 1
wrinkled green ratio.
 The Principle of
Independent Assortment

• Segregation of the
members of any pair
of alleles is
independent of the
segregation of other
pairs in the formation
of reproductive cells.
 Dihybrid Testcross
• The progeny of testcrosses show the result of
independent assortment.
• The double heterozygotes produce four types of
gametes in equal proportions; the ww gg plants
produce one type.
• The progeny phenotypes are expected to consist of
round yellow, round green, wrinkled yellow, and
wrinkled green in a ratio of 1:1:1:1.
• This observation confirmed Mendel’s assumption
that the gametes of a double heterozygote included
all possible genotypes in approximately equal
proportions.
Genotypes and Phenotypes in the
Progeny of a Dihybrid Test Cross
 Two Rules of Probability
• Addition Rule: The probability of the realization
of one or the other of two mutually exclusive
events, A or B, is the sum of their separate
probabilities.
• Multiplication Rule: The probability of two
independent events, A and B, being realized
simultaneously is given by the product of their
separate probabilities.
 Example of Addition Rule in Genetics
What is the probability that the genotype of seed in F2
progeny of Ww heterozygotes is either WW or Ww?

P{WW or Ww} = P{WW} + P{Ww}

= 0.25 + 0.50
= 0.75
 Example of the Multiplication Rule
in Genetics
In the progeny of the test cross WwGg, what is the
probability of a seed being round (WW or Ww) and Yellow
(GG or Gg)?

P{Round and Wrinkled} = P{Round} * P {Wrinkled}

= 0.5*0.5
= 0.25
 Pedigree Analysis
• In humans, pedigree analysis is used to
determine individual genotypes and to predict
the mode of transmission of single gene traits.
 Characteristics of an Autosomal
Dominant Trait
• The trait affects both sexes.
• Every affected person has an affected parent.
• About 1/2 the offspring of an affected individual
are affected.
 Example of an Autosomal
Dominant Trait
• Huntington disease is a progressive nerve
degeneration, usually beginning about
middle age, that results in severe physical
and mental disability and ultimately in death.
 Characteristics of an Autosomal
Recessive Trait
• Most affected persons have parents who are
not themselves affected; the parents are
heterozygous for the recessive allele and are
called carriers.
• Approximately 1/4 of the children of carriers are
affected.
• The parents of affected individuals are often
relatives.
 Example of an Autosomal
Recessive Trait
• Albinism: absence of pigment in the skin, hair,
and iris of the eyes. The trait affects both sexes.

Photo © Paul Burn/DigitalVision/Getty Images.

 Incomplete Dominance
• Incomplete dominance =
the phenotype of the
heterozygous genotype
is intermediate between
the phenotypes of the
homozygous genotypes.
• Incomplete dominance is
often observed when the
phenotype is quantitative
rather than discrete.
 Multiple Alleles/Codominance
(1 of 2)

• Codominance means that the heterozygous

genotype exhibits the traits associated with both
homozygous genotypes.
• Codominance is more frequent for molecular
traits than for morphological traits.
• Multiple alleles = presence in a population of
more than two alleles of a gene.
• ABO blood groups are specified by three alleles:
IA, IB, and IO.
• IA and IB are codominant; both IA and IB are
dominant to IO.
 Multiple Alleles/Codominance
(2 of 2)

• People of:
– Blood type O make both anti-A and anti-B antibodies
– Blood type A make anti-B antibodies
– Blood type B make anti-A antibodies
– Blood type AB make neither type of antibody
 Expressivity and Penetrance
• Variation in the phenotypic expression of a
particular genotype may happen because other
genes modify the phenotype or because the
biological processes that produce the phenotype
are sensitive to environment.
• Variable expressivity refers to genes that are
expressed to different degrees in different
organisms.
• Penetrance refers to the proportion of organisms
whose phenotype matches their genotype for a
given trait. A genotype that is always expressed
has a penetrance of 100 percent.
 Epistasis
(1 of 2)

• Epistasis refers to any type of gene interaction

that results in the F2 dihybrid ratio of 9:3:3:1
being modified into some other ratio.
• In a more general sense, it means that one
gene is masking the expression of the other.
Epistasis and Flower Color in Peas
 Epistasis
(2 of 2)

• There are nine possible dihybrid ratios when

both genes show complete dominance; for
example:
– 9:7 occurs when a homozygous recessive mutation
in either or both of two different genes produces the
same phenotype.
– 12:3:1 results when a dominant allele of one gene
masks the genotype of a different gene.
– 9:3:4 is observed when homozygosity for a
recessive allele masks the expression of a different
gene.
Modified F2 Dihybrid Ratios

In each row, different colors indicate different phenotypes.