Genetics

Chapter 6
Patterns of Inheritance
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
Genetics Explains and Predicts
Inheritance Patterns
Genetics can explain how

these poodles look different.
Section 10.1 Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
Analyzing their genes can also

help predict the appearance of
their offspring.
But most genes encode

proteins that have nothing to
do with outward appearance.
The enzymes essential to
these poodles’ lives are also
the products of genetics.
Studying genetics also allows

scientists to breed superior
crops and doctors to track
genetic illnesses.
Chromosomes Are Packets of
Genetic Information
Recall that DNA is wound

tightly into chromosomes.
Figure 10.1
Genetic Information
Cells with only one set of

chromosomes, such as sex cells,
are haploid.
Figure 10.1
Genetic Information
When two haploid cells fuse

during fertilization, a diploid
zygote with two full sets of
chromosomes is formed.
Figure 10.1
Genetic Information
Most cells of a mature

individual are diploid.
Figure 10.1
Genetic Information
Homologous chromosomes
have the same genes, but
might have different versions
(alleles) of those genes.
Figure 10.1
Genetic Information
Diploid cells therefore have

two alleles for each gene.
These alleles might be
identical (gene A) or
different (gene B).
Figure 10.1
Genetic Information
Each gene’s locus is its location

on a chromosome.
Figure 10.1
10.1 Mastering Concepts
How do meiosis, fertilization, diploid cells,

and haploid cells interact in a sexual life
cycle?
© 1996 PhotoDisc, Inc./Getty Images/RF
Mendel Uncovered Basic Laws
of Inheritance
Gregor Mendel used pea plants

to study heredity.
Section 10.2 Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Figure 10.2
of Inheritance
Hand-pollinating plants allowed Mendel to control

plant breeding experiments.
Figure 10.3
of Inheritance
Self-fertilizing and cross-fertilizing in different combinations

allowed Mendel to deduce the principles of inheritance.
Figure 10.4
• 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
© 2011 Pearson Education, Inc.
Figure 14.3-1
EXPERIMENT
P Generation
(true-breeding
parents) Purple White
flowers flowers
Figure 14.3-2
EXPERIMENT
P Generation
(true-breeding
flowers flowers
F1 Generation
(hybrids)
All plants had purple flowers
Self- or cross-pollination
Figure 14.3-3
EXPERIMENT
P Generation
(true-breeding
flowers flowers
F1 Generation
(hybrids)
All plants had purple flowers
Self- or cross-pollination
F2 Generation
705 purple- 224 white

flowered flowered
plants plants
The Law of Segregation
• When Mendel crossed contrasting, true-
breeding white- and purple-flowered pea
plants, all of the F1 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 to
one, purple to white flowers, in the F2
generation

• 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

• 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

Table 14.1
of Inheritance
True-breeding plants produce offspring identical to themselves.
Figure 10.4
of Inheritance
Dominant alleles exert their effects whenever they are present.

Crossing a yellow-seed plant with a green-seed plant always yields
some yellow seeds. Yellow seed color is therefore dominant.
Figure 10.4
of Inheritance
A recessive allele is one whose effect is masked

if a dominant allele is also present.
Recessive alleles usually encode nonfunctional proteins.
Figure 10.4
of Inheritance
If yellow seed color is dominant, why are some seeds green
when a yellow-seed plant is crossed with a green-seed plant?
We need more information before we can fully
answer this question.
Figure 10.4
of Inheritance
But the answer has to do with each
plant having two alleles for each
gene (because of their homologous
pairs of chromosomes).
Figures 10.4, 10.5
of Inheritance
A genotype represents an
individual’s two alleles for one
gene. The genotype confers a
phenotype, or observable
characteristic.
Figures 10.4, 10.5
of Inheritance
• Homozygous dominant individuals
have two dominant alleles for a gene.
• Heterozygous individuals have one
dominant and one recessive allele.
• Homozygous recessive individuals
have two recessive alleles.
Figures 10.4, 10.5
of Inheritance
It is possible to look at offspring to
determine the genotype of the
parent. As we’ll see, Punnett
squares help solve these puzzles.
Figures 10.4, 10.5
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

• 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 now
called alleles
• Each gene resides at a specific locus on a
specific chromosome

Figure 14.4
Allele for purple flowers
Pair of
Locus for flower-color gene homologous
chromosomes
Allele for white flowers

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

• 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

• Fourth (now known as 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

• Mendel’s segregation model accounts for the
3:1 ratio he observed in the F2 generation of his
numerous crosses
• The possible combinations of sperm and egg
can be shown using a Punnett square, a
diagram for predicting the results of a genetic
cross between individuals of known genetic
makeup
• A capital letter represents a dominant allele,
and a lowercase letter represents a recessive
allele
Distinguish between dominant and

recessive; heterozygous and homozygous;
phenotype and genotype; wild-type and
mutant.
Punnett Squares Represent Gamete
Formation and Fertilization
A Punnett square
uses the genotypes of
the parents to reveal
which alleles the
offspring may inherit.
Figure 10.6
In this example, a
female parent that is
heterozygous for
seed color is crossed
with a male parent
that is also
heterozygous for
seed color.
Figure 10.6
This is a monohybrid
cross since both
parents are
heterozygous for the
one gene being
evaluated.
Figure 10.6
Genotype Yy
indicates that all
diploid cells,
including germ cells,
in these parents have
both dominant and
recessive seed color
alleles.
Figure 10.6
When germ cells

divide by meiosis,
chromosomes (and
the alleles on those
chromosomes) are
randomly distributed
among gametes.
Figure 10.6
A gamete from the

female parent and a
gamete from the
male parent then
unite at fertilization.
Figure 10.6
If both gametes carry

dominant alleles, the
offspring will inherit
two dominant alleles.
Figure 10.6
If one gamete carries

a dominant allele and
the other carries a
recessive allele, the
offspring will be
heterozygous.
Figure 10.6
If one gamete carries

a dominant allele and
the other carries a
recessive allele, the
offspring will be
heterozygous.
Figure 10.6
If both gametes carry

recessive alleles, the
offspring will inherit
two recessive alleles.
Figure 10.6
This Punnett square

therefore represents
all possible offspring
that might result
from these parents.
Figure 10.6
This Punnett square

also shows the
relative proportion of
the offspring
phenotypes and
genotypes.
Figure 10.6
On average, three
offspring will have
yellow seeds for
every one with green
seeds.
Figure 10.6
On average, one
offspring will have
genotype YY for every
two with Yy and for
every one with yy.
Figure 10.6
Punnett squares allow us to

determine the genotypes of these
yellow-seed pea plants.
Figures 10.4, 10.5
Punnett squares also help us

answer this question:
If yellow seed color is dominant,
why are some seeds green when
a yellow-seed plant is crossed
with a green-seed plant?
Figures 10.4, 10.5
If a cross between a yellow-
seed pea plant (YY or Yy) and
a green-seed pea plant (yy)
yields all yellow seeds, the
yellow-seed parent is
homozygous dominant.
Figures 10.5, 10.8
If the cross yields some green
seeds, the yellow-seed parent
is heterozygous.
Figures 10.5, 10.8
Meiosis Explains Mendel’s
Law of Segregation
Punnett squares summarize meiosis and fertilization.
Figure 10.9
Law of Segregation
The two alleles for the Y gene are packaged into separate
gametes, which then combine at random.
Figure 10.9
Law of Segregation
Can you create a Punnett square representing
the information in this figure?
Figure 10.9
Mendel’s Law Applied to Humans
Punnett squares are

also useful for
tracking the
inheritance of genetic
disorders, such as
cystic fibrosis.
Figure 10.10
Clicker Question #1
Cystic fibrosis is caused by a recessive allele.
If a healthy carrier and an affected individual
have a child, what is the chance the child will
be affected?
A. 1/4
B. 1/3
C. 1/2
D. 3/4
E. 1
Clicker Question #1
Cystic fibrosis is caused by a recessive allele.
If a healthy carrier and an affected individual
have a child, what is the chance the child will
be affected?
A. 1/4
B. 1/3
C. 1/2
D. 3/4
E. 1
What is a monohybrid cross, and what are

the genotypic and phenotypic ratios
expected in the offspring of the cross?
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, individuals that are
heterozygous for one character
• A cross between such heterozygotes is called
a monohybrid cross

• 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

Dihybrid Crosses Track the
Inheritance of Two Genes at Once
Two genes on different chromosomes can be combined into
one large Punnett square.
Figure 10.11
• Using a dihybrid cross, Mendel developed the
law of independent assortment
• The law of independent assortment states
that each pair of alleles segregates
independently of each other pair of alleles
during gamete formation
• Strictly speaking, 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
Alleles Separate During Meiosis
Based on dihybrid crosses, Mendel proposed the law of
independent assortment, which states that the segregation of
alleles for one gene does not influence the segregation of alleles
for another gene.
Figure 10.12
Clicker Question #2
Why is it impossible for one of the female
gametes to have genotype rr?
A. Each germ cell only has one r allele.

B. Each gamete can only receive two alleles,
and one must be a y.
C. The r alleles separate during meiosis.
Clicker Question #2
Why is it impossible for one of the female
gametes to have genotype rr?
A. Each germ cell only has one r allele.

B. Each gamete can only receive two alleles,
and one must be a y.
C. The r alleles separate during meiosis.
The Product Rule Replaces Complex
Punnett Squares
Tracking two or more genes on one Punnett square is challenging
and time-consuming. The product rule simplifies these problems.
Figure 10.13
Punnett Squares
The chance that two independent events will both occur, equals
the product of the individual chances that each event will occur.
Figure 10.13
Punnett Squares
For example, the probability that an offspring inherits
genotype Rr Yy Tt is equal to the probability of Rr (1/2) times
the probability of Yy (1/2) times the probability of Tt (1/2).
Figure 10.13
Clicker Question #3
A male with genotype Qq Bb Dd is crossed
with a female with genotype qq bb dd. What
proportion of the offspring will be
homozygous recessive for all three genes?
A. 1/2
B. 1/3
C. 1/4
D. 1/6
E. 1/8
Clicker Question #3
A male with genotype Qq Bb Dd is crossed
with a female with genotype qq bb dd. What
proportion of the offspring will be
homozygous recessive for all three genes?
A. 1/2
B. 1/3
C. 1/4
D. 1/6
E. 1/8
How does the law of independent

assortment reflect the events of meiosis?
Genes on the Same Chromosome
Are Linked
The product rule cannot be used if genes are linked,
because inheriting one allele influences the likelihood
of inheriting a linked allele.
Figure 10.14
Are Linked
However, because of crossing over,
linked alleles are not always inherited together.
Figure 10.14
Are Linked
The probability of a crossover event occurring between two
linked alleles is proportional to the distance between the genes.
Figure 10.15
Are Linked
The letters below the linkage map of this chromosome

represent alleles. The numbers above represent crossover
frequencies relative to y.
Figure 10.15
Are Linked
Crossing over frequently separates y and r but rarely separates

y and w. Therefore, even without this diagram, one could infer
that y is nearer to w than to r.
Figure 10.15
Summary of Mendel’s Laws
• The law of independent assortment: each pair of
alleles segregates independently of each other pair
of alleles during gamete formation
• The law of segregation: the two alleles for a
heritable character separate (segregate) during
gamete formation and end up in different gametes
• The principle of dominance: 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
Explain how to use crossover frequencies to

make a linkage map.
Gene Expression Can Appear to Alter
Mendelian Ratios
So far we’ve discussed genes with
two alleles, in which the dominant
allele masks the recessive allele. But
gene expression does not always
follow that pattern.
Figure 10.16
Gene Expression Can Appear to Alter
Mendelian Ratios
So far we’ve discussed genes with
two alleles, in which the dominant
allele masks the recessive allele. But
gene expression does not always
follow that pattern.
• Incomplete dominance
• Codominance
• Pleiotropy
Figure 10.16
Incomplete Dominance and
Codominance Add Phenotype Classes
In incomplete dominance, the
heterozygote has an
intermediate phenotype.
Figure 10.16
The recessive allele (r2) still
encodes a nonfunctional protein.
Figure 10.16
The heterozygote is pink because it
receives half the dose of the red
pigment conferred by the dominant
allele.
Figure 10.16
In codominance, more
than one allele encodes
a functional protein.
Figure 10.17
If two dominant alleles

are present, both
proteins encoded by
those alleles will be
represented in the
phenotype.
Figure 10.17
In human blood types,

both IA and IB are
dominant alleles.
Genotype IAIB confers
red blood cells with
both A and B
molecules.
Figure 10.17
The I gene also has a

recessive allele, i, which
encodes a
nonfunctional protein.
But the two dominant
alleles, IA and IB, make
the I gene codominant.
Figure 10.17
One Gene, Many Phenotypes
In pleiotropy, one gene has multiple effects on the phenotype. For

example, a gene might affect more than one biochemical pathway.
A1 A2 A3 Phenotype A
Gene
+
Protein
B1 X B2 B3 Phenotype B
(enzyme)
+
C1 C2 C3 Phenotype C
Biochemical
pathways
One Gene, Many Phenotypes
In this example, a gene encodes a protein that catalyzes reactions

in two biochemical pathways and blocks another.
A1 A2 A3 Phenotype A
Gene
+
Protein
B1 X B2 B3 Phenotype B
(enzyme)
+
C1 C2 C3 Phenotype C
Biochemical
pathways
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
• Skin color in humans is an example of polygenic
inheritance

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
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 norm of reaction is the phenotypic range
of a genotype influenced by the environment
• For example, hydrangea flowers of the same
genotype range from blue-violet to pink,
depending on soil acidity

Figure 14.14
Figure 14.14a
Figure 14.14b
• Norms of reaction are generally broadest for
polygenic characters
• Such characters are called multifactorial
because genetic and environmental factors
collectively influence phenotype

How do incomplete dominance and

codominance increase the number of
phenotypes?
Sex-Linked Genes Have Unique
In humans, females have

two X chromosomes. Males
have one X chromosome
and one Y chromosome.
Figure 10.18
This Punnett square shows

that each fertilization event
has a 50% chance of
producing a female and a
50% chance of producing a
male.
Figure 10.18
Which gamete, the sperm or

the egg, determines the sex
of the offspring?
Figure 10.18
The egg will always carry an

X chromosome. The sex
chromosome in the sperm
therefore determines if the
offspring is female or male.
Figure 10.18
X-linked recessive
disorders affect more
males than females.
Figure 10.19
Females must
receive a recessive
allele on both X
chromosomes to
express an X-linked
recessive disorder.
Figure 10.19
Males only have one

X chromosome. To
express a recessive
disorder, they only
need to inherit one
X-linked recessive
allele.
Figure 10.19
Clicker Question #4
Hemophilia is a X-linked recessive disorder.
If an affected female and an unaffected
male have a boy, what is the chance he will
have hemophilia?
A. 0
B. 1/4
C. 1/2
D. 3/4
E. 1
Clicker Question #4
Hemophilia is a X-linked recessive
disorder. If an affected female and an
unaffected male have a boy, what is the
chance he will have hemophilia?
A. 0
B. 1/4
C. 1/2
D. 3/4
E. 1
Table 10.2
X-inactivation prevents double-dosing of gene products. Each cell
in an XX individual, such as these female cats, randomly inactivates
one X chromosome.
Section 10.7 Figure 10.20
If one X chromosome has an allele for orange fur and the other has
an allele for black fur, color patterns emerge when X chromosomes
are randomly inactivated.
Why do males and females express recessive

X-linked alleles differently?
Pedigrees Show Modes of Inheritance
A pedigree depicts family

relationships and phenotypes.
Figure 10.21
This pedigree tracks an

autosomal dominant disorder.
Figure 10.21
This pedigree tracks an

autosomal recessive disorder.
Figure 10.21
This pedigree tracks an X-

linked recessive disorder. Note
that more males are affected
than females.
Figure 10.21
Clicker Question #5
This pedigree tracks an autosomal dominant

disorder. What is the genotype of I-2?
A. homozygous dominant
B. heterozygous
C. homozygous recessive
Clicker Question #5
This pedigree tracks an autosomal dominant

disorder. What is the genotype of I-2?
A. homozygous dominant
B. heterozygous
C. homozygous recessive
How are pedigrees helpful in determining a

disorder’s mode of inheritance?
The Environment Can Alter Phenotype
Many genes are affected by the

environment. For example, the
enzyme responsible for pigment
production in Siamese cat fur is
active only in cool body parts.

Some Traits Depend on Multiple Genes
Skin color is a polygenic trait; it is affected by more than one gene.
Section 10.9 Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Figure 10.23
How can the environment affect a

phenotype?
Investigating Life: Heredity and the
Hungry Hordes
Bollworm larvae devastate cotton crops. But some bollworms are
susceptible to Bt toxin. Biologists have inserted the gene encoding
this toxin into the cotton genome.
Figure 10.24
Hungry Hordes
In a mating between two Bt-resistant bollworms, all of the
offspring will also be resistant.
Figure 10.24
Hungry Hordes
However, if a resistant bollworm mates with a susceptible bollworm,
only some—and sometimes none—of the offspring will be resistant.
(Would you guess Bt resistance is conferred by a dominant or a
recessive allele?)
Figure 10.24
Hungry Hordes
To avoid 100% resistance among bollworms of future generations,
farmers must plant some crops without the toxin gene.
Crops with
the Bt toxin
Crops without the Bt toxin

Figure 10.24
Hungry Hordes
This arrangement increases the chance that some susceptible
bollworms will remain in the population.
Crops with
the Bt toxin
Crops without the Bt toxin

Figure 10.24
Explain the logic of planting non-Bt crop

buffer strips around fields planted with Bt
crops.

Genetics

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Chapter 6

Genetics can explain how

Analyzing their genes can also

But most genes encode

Studying genetics also allows

Recall that DNA is wound

Cells with only one set of

When two haploid cells fuse

Most cells of a mature

Diploid cells therefore have

Each gene’s locus is its location

How do meiosis, fertilization, diploid cells,

© 1996 PhotoDisc, Inc./Getty Images/RF

Gregor Mendel used pea plants

Hand-pollinating plants allowed Mendel to control

Self-fertilizing and cross-fertilizing in different combinations

705 purple- 224 white

© 2011 Pearson Education, Inc.

© 2011 Pearson Education, Inc.

© 2011 Pearson Education, Inc.

True-breeding plants produce offspring identical to themselves.

Dominant alleles exert their effects whenever they are present.

A recessive allele is one whose effect is masked

© 2011 Pearson Education, Inc.

© 2011 Pearson Education, Inc.

Allele for purple flowers

Allele for white flowers

© 2011 Pearson Education, Inc.

© 2011 Pearson Education, Inc.

© 2011 Pearson Education, Inc.

Distinguish between dominant and

© 1996 PhotoDisc, Inc./Getty Images/RF

When germ cells

A gamete from the

If both gametes carry

If one gamete carries

If one gamete carries

If both gametes carry

This Punnett square

This Punnett square

Punnett squares allow us to

Punnett squares also help us

Punnett squares are

© 1996 PhotoDisc, Inc./Getty Images/RF

© 1996 PhotoDisc, Inc./Getty Images/RF

What is a monohybrid cross, and what are

© 1996 PhotoDisc, Inc./Getty Images/RF

© 2011 Pearson Education, Inc.

© 2011 Pearson Education, Inc.

A. Each germ cell only has one r allele.

© 1996 PhotoDisc, Inc./Getty Images/RF

A. Each germ cell only has one r allele.

© 1996 PhotoDisc, Inc./Getty Images/RF

© 1996 PhotoDisc, Inc./Getty Images/RF

© 1996 PhotoDisc, Inc./Getty Images/RF

How does the law of independent

© 1996 PhotoDisc, Inc./Getty Images/RF

The letters below the linkage map of this chromosome

Crossing over frequently separates y and r but rarely separates

Explain how to use crossover frequencies to

© 1996 PhotoDisc, Inc./Getty Images/RF

If two dominant alleles

In human blood types,