Chapter 14

Mendelian
Genetics

Lecture Presentations by
Nicole Tunbridge and
© 2018 Pearson Education Ltd.
Kathleen Fitzpatrick
Drawing from the Deck of Genes

 What principles account for the transmission of traits

from parents to offspring?
 The “blending” hypothesis is the idea that genetic
material from the two parents blends together
(like blue and yellow paint blend to make green)

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 The “particulate” hypothesis is the idea that parents
pass on discrete heritable units (genes)
 Mendel documented a particulate mechanism
through his experiments with garden peas

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Figure 14.1

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Figure 14.1a

Mendel (third from right, holding a sprig of fuchsia)

with his fellow monks

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Concept 14.1: Mendel used the scientific
approach to identify two laws of inheritance
 Mendel discovered the basic principles of heredity
by breeding garden peas in carefully planned
experiments

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Mendel’s Experimental, Quantitative Approach

 Mendel’s approach allowed him to deduce principles

that had remained elusive to others
 A heritable feature that varies among individuals
(such as flower color) is called a character
 Each variant for a character, such as purple or white
color for flowers, is called a trait
 Peas were available to Mendel in many different
varieties

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 Other advantages of using peas
 Short generation time
 Large numbers of offspring
 Mating could be controlled; plants could be allowed to
self-pollinate or could be cross-pollinated

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Figure 14.2
Technique
1

Parental
generation
(P)
Stamens
Carpel
3

Results
First 5
filial
generation
offspring
(F1)
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 Mendel chose to track only those characters that
occurred in two distinct alternative forms
 He also started with varieties that were true-
breeding (plants that produce offspring of the same
variety when they self-pollinate)

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 In a typical experiment, Mendel mated two
contrasting, true-breeding varieties, a process called
hybridization
 The true-breeding parents are the P generation
 The hybrid offspring of the P generation are called
the F1 generation
 When F1 individuals self-pollinate or cross-pollinate
with other F1 hybrids, the F2 generation is produced

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The Law of Segregation

 When Mendel crossed contrasting, true-breeding

white- and purple-flowered pea plants, all of the F 1
hybrids were purple
 When Mendel crossed the F1 hybrids, many of the F2
plants had purple flowers, but some had white
 Mendel discovered a ratio of about three purple
flowers to one white flower in the F2 generation

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Figure 14.3_1
Experiment

P Generation ×
(true-breeding
parents) Purple White
flowers flowers

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Figure 14.3_2
Experiment

P Generation ×
(true-breeding
parents) Purple White
flowers flowers

F1 Generation
(hybrids)
All plants had purple flowers
Self- or cross-pollination

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Figure 14.3_3
Experiment

P Generation ×
(true-breeding
parents) Purple White
flowers flowers

F1 Generation
(hybrids)
All plants had purple flowers
Self- or cross-pollination

F2 Generation

705 purple-flowered 224 white-flowered

plants plants
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 Mendel reasoned that only the purple flower factor
was affecting flower color in the F1 hybrids
 Mendel called the purple flower color a dominant
trait and the white flower color a recessive trait
 The factor for white flowers was not diluted or
destroyed because it reappeared in the F2 generation

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 Mendel observed the same pattern of inheritance in
six other pea plant characters, each represented by
two traits
 What Mendel called a “heritable factor” is what we
now call a gene

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Table 14.1a

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Table 14.1b

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Mendel’s Model

 Mendel developed a hypothesis to explain the 3:1

inheritance pattern he observed in F2 offspring
 Four related concepts make up this model
 These concepts can be related to what we now know
about genes and chromosomes

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 First: alternative versions of genes account for
variations in inherited characters
 For example, the gene for flower color in pea plants
exists in two versions, one for purple flowers and the
other for white flowers
 These alternative versions of a gene are called
alleles
 Each gene resides at a specific locus on a specific
chromosome

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Figure 14.4

Enzyme
C T A A A T C G G T

Allele for G A T T T A G C C A
purple flowers Enzyme that
CTAAATCGGT helps synthesize
purple pigment
Pair of
Locus for flower- homologous
color gene chromosomes

Allele for Absence One allele

white flowers of enzyme results in
A T A A A T C G G T
sufficient
T A T T T A G C C A pigment.
ATAAATCGGT

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 Second: for each character, an organism inherits two
alleles, one from each parent
 Mendel made this deduction without knowing about
chromosomes
 The two alleles at a particular locus may be identical,
as in the true-breeding plants of Mendel’s P
generation
 Or the two alleles at a locus may differ, as in the F1
hybrids

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 Third: if the two alleles at a locus differ, then one (the
dominant allele) determines the organism’s
appearance, and the other (the recessive allele)
has no noticeable effect on appearance
 In the flower-color example, the F1 plants had purple
flowers because the allele for that trait is dominant

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 Fourth (the law of segregation): the two alleles for a
heritable character separate (segregate) during
gamete formation and end up in different gametes
 Thus, an egg or a sperm gets only one of the two
alleles that are present in the organism
 This segregation of alleles corresponds to the
distribution of homologous chromosomes to different
gametes in meiosis

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 The model accounts for the 3:1 ratio observed in the
F2 generation of Mendel’s crosses
 Possible combinations of sperm and egg can be
shown using a Punnett square
 A capital letter represents a dominant allele, and a
lowercase letter represents a recessive allele

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Figure 14.5_1

P Generation
×
Appearance: Purple flowers White flowers
Genetic makeup: PP pp
Gametes: P p

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Figure 14.5_2

P Generation
×
Appearance: Purple flowers White flowers
Genetic makeup: PP pp
Gametes: P p

F1 Generation

Appearance: Purple flowers

Genetic makeup: Pp
Gametes: ½ P ½ p

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Figure 14.5_3

P Generation
×
Appearance: Purple flowers White flowers
Genetic makeup: PP pp
Gametes: P p

F1 Generation

Appearance: Purple flowers

Genetic makeup: Pp
Gametes: ½ P ½ p

Sperm from F1 (Pp) plant

F2 Generation P p

P
Eggs from PP Pp
F1 (Pp) plant
p
Pp pp

3 :1
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Useful Genetic Vocabulary

 An organism with two identical alleles for a character

is called a homozygote
 It is said to be homozygous for the gene controlling
that character
 An organism with two different alleles for a gene is a
heterozygote and is said to be heterozygous for
the gene controlling that character
 Unlike homozygotes, heterozygotes are not true-
breeding

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 An organism’s traits do not always reveal its genetic
composition
 Therefore, we distinguish between an organism’s
phenotype, or physical appearance, and its
genotype, or genetic makeup
 In the example of flower color in pea plants, PP and
Pp plants have the same phenotype (purple) but
different genotypes

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Figure 14.6
Phenotype Genotype

Purple PP 1
(homozygous)

3 Purple Pp
(heterozygous)
2
Purple Pp
(heterozygous)

White pp
1 1
(homozygous)

Ratio 3:1 Ratio 1:2:1

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The Testcross

 An individual with the dominant phenotype could be

either homozygous dominant or heterozygous
 To determine the genotype we can carry out a
testcross: breeding the mystery individual with a
homozygous recessive individual
 If any offspring display the recessive phenotype, the
mystery parent must be heterozygous

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Figure 14.7
Technique

×
Dominant phenotype, Recessive phenotype,
unknown genotype: known genotype:
PP or Pp? pp

Predictions
If purple-flowered or If purple-flowered
parent is PP: parent is Pp:
Sperm Sperm
p p p p

P P
Pp Pp Pp Pp
Eggs Eggs
P p
Pp Pp pp pp

Results
or
All offspring purple 1 2 offspring purple and
1 2 offspring white
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The Law of Independent Assortment

 Mendel derived the law of segregation by following a

single character
 The F1 offspring produced in this cross were
monohybrids, heterozygous for one character
 A cross between such heterozygotes is called
a monohybrid cross

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 Mendel identified his second law of inheritance by
following two characters at the same time
 Crossing two true-breeding parents differing in two
characters produces dihybrids in the F1 generation,
heterozygous for both characters
 A dihybrid cross, a cross between F1 dihybrids, can
determine whether two characters are transmitted to
offspring as a package or independently

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Figure 14.8
Experiment

P Generation YYRR yyrr

Gametes YR × yr

F1 Generation
YyRr

Predictions Hypothesis of Hypothesis of

dependent assortment independent assortment

or Sperm
Predicted 1 1 1 1
Sperm 4 YR 4 Yr 4 yR 4 yr
offspring of
F2 generation 1
2 YR 1
2 yr
1 YR
4
YYRR YYRr YyRR YyRr
1
2 YR
YYRR YyRr 1 Yr
Eggs 4
YYRr YYrr YyRr Yyrr
1 yr
Eggs
2
YyRr yyrr 1
yR
4
YyRR YyRr yyRR yyRr
3 1
4 4
1 yr
4
Phenotypic ratio 3:1 YyRr Yyrr yyRr yyrr

9 3 3 1
16 16 16 16
Phenotypic ratio 9:3:3:1

Results

315 108 101 32 Phenotypic ratio approximately 9:3:3:1

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Figure 14.8a

Experiment

P Generation YYRR yyrr

Gametes YR × yr

F1 Generation
YyRr

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Figure 14.8b

Hypothesis of Hypothesis of
dependent assortment independent assortment
Sperm
Predicted 1 1 1 1 yr
Sperm YR Yr yR
offspring of 4 4 4 4
F2 generation 1
YR
1
yr
2 2
1 YR
4
YYRR YYRr YyRR YyRr
1
2 YR
YYRR YyRr 1 Yr
Eggs 4 YYRr YYrr YyRr Yyrr
1 yr
Eggs
2
YyRr yyrr 1
yR
4
YyRR YyRr yyRR yyRr
3 1
4 4
1 yr
4
Phenotypic ratio 3:1 YyRr Yyrr yyRr yyrr
9 3 3 1
16 16 16 16
Phenotypic ratio 9:3:3:1

Results

315 108 101 32 Phenotypic ratio approximately 9:3:3:1

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Figure 14.8c

3 ⁄4 1⁄4

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Figure 14.8d

9 16 3 16 3 16 1 16

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 Using a dihybrid cross, Mendel developed the law of
independent assortment
 It states that each pair of alleles segregates
independently of any other pair of alleles during
gamete formation
 This law applies only to genes on different,
nonhomologous chromosomes or those far apart on
the same chromosome
 Genes located near each other on the same
chromosome tend to be inherited together

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Concept 14.2: Probability laws govern
Mendelian inheritance
 Mendel’s laws of segregation and independent
assortment reflect the rules of probability
 When tossing a coin, the outcome of one toss has
no impact on the outcome of the next toss
 In the same way, the alleles of one gene segregate
into gametes independently of another gene’s alleles

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The Multiplication and Addition Rules Applied
to Monohybrid Crosses
 The multiplication rule states that the probability
that two or more independent events will occur
together is the product of their individual probabilities
 Probability in an F1 monohybrid cross can be
determined using the multiplication rule
 Segregation in a heterozygous plant is like flipping a
coin: Each gamete has a ½ chance of carrying the
dominant allele and a ½ chance of carrying the
recessive allele

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Figure 14.9
Rr × Rr
Segregation of Segregation of
alleles into eggs alleles into sperm

Sperm

1 R 1 r
2 2

R R
1 R R r
2

1 1
4 4
Eggs

r r
r R r
1
2
1 1
4 4
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 The addition rule states that the probability that any
one of two or more mutually exclusive events will
occur is calculated by adding together their
individual probabilities
 The rule of addition can be used to figure out the
probability that an F2 plant from a monohybrid cross
will be heterozygous rather than homozygous

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Solving Complex Genetics Problems with the
Rules of Probability
 We can apply the rules of probability to predict the
outcome of crosses involving multiple characters
 A multicharacter cross is equivalent to two or more
independent monohybrid crosses occurring
simultaneously
 In calculating the chances for various genotypes,
each character is considered separately, and then
the individual probabilities are multiplied

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Figure 14.UN01

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Figure 14.UN02

PpYyRr X Ppyyrr

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Concept 14.3: Inheritance patterns are often
more complex than predicted by simple
Mendelian genetics
 The relationship between genotype and phenotype
is rarely as simple as in the pea plant characters
Mendel studied
 Many heritable characters are not determined by
only one gene with two alleles
 However, the basic principles of segregation and
independent assortment apply even to more
complex patterns of inheritance

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Extending Mendelian Genetics for a Single
Gene
 Inheritance of characters by a single gene may
deviate from simple Mendelian patterns in the
following situations:
 When alleles are not completely dominant or
recessive
 When a gene has more than two alleles
 When a gene produces multiple phenotypes

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Degrees of Dominance

 Complete dominance occurs when phenotypes of

the heterozygote and dominant homozygote are
identical
 In incomplete dominance, the phenotype of F1
hybrids is somewhere between the phenotypes of
the two parental varieties
 In codominance, two dominant alleles affect the
phenotype in separate, distinguishable ways

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Figure 14.10_1

P Generation
Red White
CRCR × CWCW

Gametes CR CW

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Figure 14.10_2

P Generation
Red White
CRCR × CWCW

Gametes CR CW

F1 Generation
Pink
CRCW

Gametes 1/
2 CR 1/
2 CW

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Figure 14.10_3

P Generation
Red White
CRCR × CWCW

Gametes CR CW

F1 Generation
Pink
CRCW

Gametes 1/
2 CR 1/
2 CW

F2 Generation Sperm
1/ 1/
2 CR 2 CW

1/
2
CR
CRCR C RC W
Eggs
1/ CW
2
CRCW CWCW

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The Relationship Between Dominance and
Phenotype
 In the case of pea shape, the dominant allele codes
for an enzyme that converts an unbranched form of
starch in the seed to a branched form
 The recessive allele codes for a defective form of the
enzyme, which leads to an accumulation of
unbranched starch
 This causes water to enter the seed, which then
wrinkles as it dries

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 Tay-Sachs disease is fatal; a dysfunctional enzyme
causes an accumulation of lipids in the brain
 At the organismal level, the allele is recessive
 At the biochemical level, the phenotype (i.e., the
enzyme activity level) is incompletely dominant
 At the molecular level, the alleles are codominant

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Frequency of Dominant Alleles
 Dominant alleles are not necessarily more common
in populations than recessive alleles
 One baby out of 400 in the United States is born with
extra fingers or toes
 This condition, polydactyly, is caused by a dominant
allele, found much less frequently in the population
than the recessive allele

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Multiple Alleles

 Most genes exist in populations in more than two

allelic forms
 For example, the four phenotypes of the ABO blood
group in humans are determined by three alleles for
the enzyme that attaches A or B carbohydrates to
red blood cells: IA, IB, and i
 The enzyme encoded by the IA allele adds the A
carbohydrate, whereas the enzyme encoded by the
IB allele adds the B carbohydrate; the enzyme
encoded by the i allele adds neither

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Figure 14.11

(a) The three alleles for the ABO blood groups and their
carbohydrates

Allele IA IB i

Carbohydrate A B none

(b) Blood group genotypes and phenotypes

Genotype IAIA or IAi IBIB or IBi IAIB ii

Red blood cell

with surface
carbohydrates

Phenotype
(blood group) A B AB O

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Pleiotropy

 Most genes have multiple phenotypic effects, a

property called pleiotropy
 For example, pleiotropic alleles are responsible for
the multiple symptoms of certain hereditary
diseases, such as cystic fibrosis (higher than normal level of salt in
their sweat, A persistent cough that produces thick mucus (sputum), Wheezing,
Breathlessness, Exercise intolerance, Repeated lung infections)

 and sickle-cell disease (Anemia, Episodes of pain, Painful swelling of

hands and feet, Frequent infectionsm, Delayed growth, Vision problems)

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Extending Mendelian Genetics for Two or More
Genes
 Some traits may be determined by two or more
genes
 In epistasis, one gene affects the phenotype of
another due to interaction of their gene products
 In polygenic inheritance, multiple genes
independently affect a single trait

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Epistasis

 In epistasis, expression of a gene at one locus

alters the phenotypic expression of a gene at a
second locus
 For example, in Labrador retrievers and many
other mammals, coat color depends on two genes
 One gene determines the pigment color (with alleles
B for black and b for brown)
 The other gene (with alleles E for color and e for
no color) determines whether the pigment will be
deposited in the hair

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 If heterozygous black labs (genotype BbEe) are
mated, we might expect the dihybrid F2 ratio of
9:3:3:1
 However, a Punnett square shows that the
phenotypic ratio will be 9 black to 3 chocolate to 4
yellow labs
 Epistatic interactions produce a variety of ratios, all
of which are modified versions of 9:3:3:1

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Figure 14.12

BbEe × BbEe

Sperm
1 BE 1 bE 1 Be 1 be
4 4 4 4
Eggs
1 BE
4
BBEE BbEE BBEe BbEe

1 bE
4
BbEE bbEE BbEe bbEe

1 Be
4
BBEe BbEe BBee Bbee

1 be
4
BbEe bbEe Bbee bbee

9 : 3 : 4

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Figure 14.12a

Sperm
1 BE 1 bE 1 Be 1 be
4 4 4 4
Eggs
1 BE
4
BBEE BbEE BBEe BbEe

1 bE
4
BbEE bbEE BbEe bbEe

1 Be
4
BBEe BbEe BBee Bbee

1 be
4
BbEe bbEe Bbee bbee

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Polygenic Inheritance

 Quantitative characters are those that vary in the

population along a continuum
 Quantitative variation usually indicates polygenic
inheritance, an additive effect of two or more genes
on a single phenotype
 Height is a good example of polygenic inheritance:
Over 180 genes affect height
 Skin color in humans is also controlled by many
separately inherited genes

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Figure 14.13

×
AaBbCc AaBbCc

Sperm
1 1 1 1 1 1 1 1
8 8 8 8 8 8 8 8

1
8

1
8

1
8

1
8
Eggs
1
8

1
8

1
8

1
8

Phenotypes: 1
64
6
64
15
64
20
64
15
64 6
64
1
64

Number of
dark-skin alleles: 0 1 2 3 4 5 6
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Figure 14.13a
Sperm
1 1 1 1 1 1 1 1
8 8 8 8 8 8 8 8

1
8

1
8

1
8

1
8
Eggs
1
8

1
8

1
8

1
8

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Nature and Nurture: The Environmental Impact
on Phenotype
 Another departure from Mendelian genetics arises
when the phenotype for a character depends on
environment as well as genotype
 The phenotypic range is broadest for polygenic
characters
 Traits that depend on multiple genes combined with
environmental influences are called multifactorial

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Figure 14.14

(a) Hydrangeas grown in (b) Hydrangeas of the same

basic soil genetic variety grown in
acidic soil with free aluminum

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A Mendelian View of Heredity and Variation

 An organism’s phenotype includes its physical

appearance, internal anatomy, physiology, and
behavior
 An organism’s phenotype reflects its overall
genotype and unique environmental history

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