Mendelian

Genetics

he grandfather of modern genetics and breedin

 inheritance were carried out by Gregor
Mendel.

 Austrian monk. Born in 1822 to peasant

parents, Mendel was educated in a
monastery and went on to study science
and mathematics

 He returned to the monastery and spent

the rest of his life there, eventually
becoming abbot.

 In the garden of the monastery, Mendel

initiated a series of experiments on plant
hybridization.

 The results of these experiments would

Why Mendel Chose the Garden
Pea
1. Many earlier investigators had produced
hybrid peas by crossing different
varieties.

2. A large number of true-breeding varieties

of peas were available.

3. Pea plants are small and easy to grow,

and they have a relatively short
generation time.

4. Advantage of studying peas is that the

sexual organs of the pea are enclosed
The seven pea characteristics studied by Mendel

Flower color Purple White

Flower position Axial Terminal

Seed color Yellow Green

Seed shape Round Wrinkled

Pod shape Inflated Constricted

Pod color Green Yellow

Stem length Tall Dwarf

 Mendel’s Experimental
Design

1. Self-Fertilize & 2. Produce first filial 3. Let F1 generation

Produce a True- generation (F1) self-fertilize to
Breeding produce a second
Transfer pollen from filial generation
Generation
one parent to the (F2)
other.
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Anthers
removed

All purple flowers result

Results of Mendel’s Crosses
Results of Mendel’s Crosses
 Genetic Terms
 Genotyp genetic makeup of an organism or
e:
alleles carried by an individual or
Arrangement of genes that produces the phenotype

 Phenoty physical characteristic or

appearance of an individual
pe:
Example:
1. Tall pea plant
TT = tall (homozygous dominant)
2. Tall pea plant
Tt = tall (heterozygous)
3. Dwarf pea plant
tt = dwarf (homozygous recessive)
 Homozygous parents can only pass one
form of an allele to their offspring.

Homozygous parent Gametes

R R R R
 Heterozygous parents can pass either of
two forms of an allele to their offspring.

Heterozygous parent Gametes

 Dominant allele:
The general term for an allele that masks
the presence of another allele in the
phenotype.

 Recessive allele:
The general term for an allele that is
masked in the phenotype by the presence
of another allele.
A Disguised 1:2:1 Ratio
Mendel went on to examine how the F2 plants
passed traits on to subsequent generations.
He found that the recessive ¼ were always true-
breeding.
This result suggested that, for the entire sample,
the 3:1 ratio that Mendel observed in the F2
generation was really a disguised 1:2:1 ratio:
¼ pure-breeding dominant individuals.
½ not pure- breeding dominant individuals.
¼ pure-breeding recessive individuals (figure
13.12).
From his experiments, Mendel was able to
understand four things about the nature of
heredity.

First: The plants he crossed did not produce

progeny of intermediate appearance.

Second: Mendel learned that for each pair of

alternative forms of a character, one
alternative was not expressed in the F1
hybrids, although it reappeared in some F2
individuals.

Third: The pairs of alternative traits examined

segregated among the progeny of a
particular cross, some individuals
exhibiting one trait, some the other.

Fourth: These alternative traits were expressed

 Punnett square

 A Punnett square is used to show the

possible combinations of gametes.

Segregation and fertilization as chance

events
 White Flower
(pp)

Gametes
Purple Flower
(PP)

Gametes
 White
Flower
(pp)

p p Gametes

P Pp Pp
Purple Pp Pp
Gametes
Flower
(PP) P
Pp Pp
Pp Pp
F1 generation
Second Filial Generation
(F2)
Purple
Flower
Phenotypic Ratio = 3:1 (Pp)

Genotypic Ratio = 1:2:1

Gametes
P p

P PP Pp
PP Pp
Gametes
Purple
Flower p
Pp pp
(Pp) pp
Pp
 To explain these results, Mendel
proposed a simple model.
 It has become one of the most famous
models in the history of science,
containing simple assumptions and
making clear predictions.

 The model has five elements:

1. Parents do not transmit physiological

traits directly to their offspring.
Rather, they transmit discrete
information about the traits, what
Mendel called “factors.”

2. Each individual receives two factors

that may code for the same trait or for
3. Not all copies of a factor are identical.

4. The two alleles, one contributed by the

male gamete and one by the female, do
not influence each other in any way.

5. The presence of a particular allele does

not ensure that the trait encoded by it
will be expressed in an individual
carrying that allele.
 Mendel’s First Law of Heredity:
Segregation

Alternative alleles of a character

segregate from each other in
heterozygous individuals and remain
distinct
Phenotype vs. genotype
 SS and Ss
– Two different genotype
– The same phenotype

 How do you distinguish these two

genotypes experimentally (like
Mendel)?
How can we know if it is homozygous (PP)
or heterozygous (Pp)?

Test Cross:
A mating between an individual of unknown
genotype and a homozygous recessive
individual.
Test Cross: Confirmation of
Segregation
endel’s Second Law of Heredity

ndependent Assortment
A modern restatement of Mendel’s
Second Law would be that:
genes that are located on different
chromosomes assort independently
during meiosis.
Mendelian inheritance is not always
easy to analyze
 In the decades following the rediscovery
of Mendel, many investigators set out to
test Mendel’s ideas.

 However, scientists attempting to

confirm Mendel’s theory often had
trouble obtaining the same simple ratios
he had reported.

 Most phenotypes reflect the action of

many genes that act sequentially or
jointly, and the phenotype can be
affected by alleles that lack complete
 Continuous Variation

We call this gradation continuous variation.

Pleiotropic Effects
 Often, an individual allele will have more than
one effect on the phenotype. Such an allele is
said to be pleiotropic.
 When French geneticist Cuenot studied yellow
fur in mice he was unable to obtain a true-
breeding yellow strain by crossing individual
yellow mice with each other.
 Individuals homozygous for the yellow allele
died, because the yellow allele was pleiotropic.
 A pleiotropic allele may be dominant with
respect to one phenotypic consequence
(yellow fur) and recessive with respect to
another (lethal developmental defect).
 Pleiotropic effects are characteristic of
many inherited disorders sickle cell
anemia.

 In these disorders, multiple symptoms

can be traced back to a single gene
defect.

 In sickle cell anemia, a defect in the

oxygen-carrying hemoglobin molecule
causes anemia, heart failure, kidney
failure, enlargement of the spleen, and
many other symptoms.
Lack of Complete Dominance
 Not all alternative alleles are fully dominant or
fully recessive in heterozygotes.
 Some pairs of alleles instead produce a
heterozygous phenotype that is either
intermediate between those of the parents
(incomplete dominance), or representative of
both parental phenotypes (codominance).
 For example, in the cross of red and white
flowering Japanese four o’clocks, all the F1
offspring had pink flowers—indicating that
neither red nor white flower color was
dominant.
 Does this example of incomplete dominance
argue that Mendel was wrong?
Environmental Effects

 The degree to which an allele is

expressed may depend on the
environment.
 Some alleles are heat-sensitive, for
example.
 Traits influenced by such alleles are
more sensitive to temperature or light
than are the products of other alleles.
 The arctic foxes make fur pigment only
when the weather is warm.
Epistasis
 When individuals heterozygous for two
different genes mate (a dihybrid cross), four
different phenotypes are possible among the
progeny: offspring may display the dominant
phenotype for both genes, either one of the
genes, or for neither gene.

 Sometimes, however, it is not possible for an

investigator to identify successfully each of the
four phenotypic classes, because two or more
of the classes look alike.

 Such situations proved confusing to

investigators following Mendel.
 What was happening?

 Mendel had predicted 16 equally possible ways

gametes could combine.

 How many of these were in each of the two

types Emerson obtained?

 He multiplied the fraction that were pigment

producers (0.56) by 16 to obtain 9, and
multiplied the fraction that were not (0.44) by
16 to obtain 7.

 Thus, Emerson had a modified ratio of 9:7

instead of the usual 9:3:3:1 ratio.
Why Was Emerson’s Ratio Modified?
 When genes act sequentially, as in a
biochemical pathway, an allele expressed as a
defective enzyme early in the pathway blocks
the flow of material through the rest of the
pathway.

 Such gene interaction, where one gene can

interfere with the expression of another gene,
is the basis of the phenomenon called
epistasis.

 The pigment anthocyanin is the product of a

two-step biochemical pathway:
Multiple Alleles: The ABO Blood Groups

 A gene may have more than two alleles in a

population, and most genes possess several
different alleles.
 Often, no single allele is dominant; instead,
each allele has its own effect, and the alleles
are considered codominant.

 This gene encodes an enzyme that adds sugar

molecules to lipids on the surface of red blood
cells.

 The gene that encodes the enzyme, designated

I, has three common alleles: IB, whose product
adds galactose; IA, whose product adds
galactosamine; and i, which codes for a protein
 Human Blood Groups

Phenoty Antigen Antibody

Genotype
pe present produced
A IAIA A Anti-B
A IAi A Anti-B
B IBIB B Anti-A
B IBi B Anti-A
AB IAIB A&B None
Anti-A &
O ii None
Anti-B
 Blood Antigen Test
Red Blood Antiserum Results
Cell Added
Antigen
A Anti-A clump
B Anti-B clump
AB Anti-A & Anti- both
B clump
O Neither Anti-A no clump
nor Anti-B
 If a type A individual receives a transfusion of
type B blood, the recipient’s immune system
recognizes that the type B blood cells possess
a “foreign” antigen (galactose) and attacks the
donated blood cells, causing the cells to clump,
or agglutinate.

 This also happens if the donated blood is type

AB.

 However, if the donated blood is type O, no

immune attack will occur, as there are no
galactose antigens on the surfaces of blood
cells produced by the type O donor.

 In general, any individual’s immune system will

tolerate a transfusion of type O blood.
The Rh Blood Group
 Another set of cell surface markers on human
red blood cells.

 Rh-negative persons lack this cell surface

marker because they are homozygous for the
recessive gene encoding it.

 At birth, some fetal red blood cells cross the

placental barrier and enter the mother’s
bloodstream, where they induce the production
of “anti- Rh” antibodies.

 In subsequent pregnancies, the mother’s

antibodies can cross back to the new fetus and
cause its red blood cells to clump, leading to a
potentially fatal condition called
 Question: How many gametes will be
produced for the following allele
arrangements?

 Remember: 2n (n = # of
heterozygotes)

1. RrYy
2. AaBbCCDd
3. MmNnOoPPQQRrssTtQq
 Answer:

1. RrYy: 2n = 22 = 4 gametes
RY Ry rY ry

2. AaBbCCDd: 2n = 23 = 8 gametes
ABCD ABCd AbCD AbCd
aBCD aBCd abCD abCD

3. MmNnOoPPQQRrssTtQq: 2n = 26 = 64
gametes
Incomplete dominance
Examples of inherited traits in
humans
Dominant Traits Recessive Traits

Freckles No freckles

Widow’s peak Straight hairline

Free earlobe Attached earlobe