Patterns of Inheritance: With Physiology

BIOLOGY Life on Earth
WITH PHYSIOLOGY Tenth Edition

Audesirk Audesirk Byers
10
Patterns of
Inheritance
Lecture Presentations by
Carol R. Anderson
Westwood College, River Oaks Campus
2014 Pearson Education, Inc.
Chapter 10 At a Glance
10.1 What Is the Physical Basis of Inheritance?
10.2 How Were the Principles of Inheritance
Discovered?
10.3 How Are Single Traits Inherited?
10.4 How Are Multiple Traits Inherited?
Chapter 10 At a Glance (continued)

10.5 Do the Mendelian Rules of Inheritance Apply to
All Traits?
10.6 How Are Genes Located on the Same
Chromosome Inherited?
10.7 How Are Sex-Linked Genes Inherited?
10.8 How Are Human Genetic Disorders Inherited?

Inheritance is the process by which the traits of
organisms are passed to their offspring

Genes are sequences of nucleotides at specific
locations on chromosomes
Inheritance is the process by which the characteristics
of individuals are passed to their offspring
A gene is a unit of heredity that encodes information
needed to produce proteins, cells, and entire
organisms
Genes comprise segments of DNA ranging from a few
hundred to many thousands of nucleotides in length
The location of a gene on a chromosome is called its

locus (plural, loci)

Genes are sequences of nucleotides at specific
locations on chromosomes (continued)
Homologous chromosomes carry the same kinds of
genes for the same characteristics
Genes for the same characteristic are found at the
same loci on both homologous chromosomes
Genes for a characteristic found on homologous
chromosomes may not be identical
Alternative versions of genes found at the same gene
locus are called alleles

Mutations are the source of alleles
Alleles arise as mutationschanges in the
nucleotide sequence in genes
If a mutation occurs in a cell that becomes a sperm or
egg, it can be passed on from parent to offspring
Most mutations occurring in the DNA of an organism
initially appeared in the reproductive cells
New mutations may have occurred in reproductive
cells of the organisms own parents, but this is quite a
rarity

An organisms two alleles may be the same or
different
Each cell carries two alleles per characteristic, one on
each of the two homologous chromosomes
If both homologous chromosomes carry the same
allele (gene form) at a given gene locus, the organism
is homozygous at that locus
If two homologous chromosomes carry different alleles
at a given locus, the organism is heterozygous at that
locus (a hybrid)
Figure 10-1 The relationships among genes, alleles, and chromosomes
a pair of
homologous
chromosomes
Both chromosomes carry the same allele
of the gene at this locus; the organism
is homozygous at this locus
gene loci
This locus contains another gene for
which the organism is homozygous
Each chromosome carries a different

allele of this gene, so the organism is
heterozygous at this locus
the chromosome
from the male
parent
the chromosome
from the female
parent

Discovered?
Gregor Mendel, an Austrian monk, discovered the
common patterns of inheritance and many essential
facts about genes, alleles, and the distribution of
alleles in gametes and zygotes during sexual
reproduction
He chose the edible pea plant for his experiments,
which took place in the monastery garden
Mendels background allowed him to see patterns in
the way plant characteristics were inherited
Figure 10-2 Gregor Mendel

Discovered?
Doing it right: The secrets of Mendels success
Mendel was the first to perform experiments by
correctly applying three key scientific steps to his
research:
1. Choosing the right organism with which to work
2. Designing and performing the experiment correctly
3. Analyzing the data properly

Discovered?
(continued)
Pea plants have qualities that make them a good
organism for studying inheritance
Pea flowers have stamens, the male structures that
produce pollen, which in turn contain the sperm (male
gametes); sperm are gametes and pollen is the vehicle
Pea flowers have carpels, female structures housing
the ovaries, which produce the eggs (female gametes)
Pea flower petals enclose both male and female flower
parts and prevent entry of pollen from another pea plant
Figure 10-3 Flowers of the edible pea
intact pea
flower
flower dissected
to show its
reproductive structures
Carpel (female,
produces eggs)
Stamens (male, produce pollen

grains that contain sperm)

Discovered?
(continued)
Because of their structure, pea flowers naturally selffertilize
Pollen from the stamen of a plant transfers to the carpel
of the same plant, where the sperm then fertilizes the
plants eggs

Discovered?
(continued)
Mendel was able to mate two different plants by hand
(cross-fertilization)
Female parts (carpels) were dusted with pollen from
other selected plants

Discovered?
(continued)
Unlike previous researchers, Mendel chose a simple
experimental design
He chose to study individual characteristics (called
traits) that had unmistakably different forms, such as
white versus purple flowers
He started out by studying only one trait at a time

Discovered?
(continued)
Mendel employed numerical analysis in studying the
traits
He followed the inheritance of these traits for several
generations, counting the numbers of offspring with
each type of trait
By analyzing these numbers, he saw the basic patterns
of inheritance emerge

True-breeding organisms possess traits that remain
inherited unchanged by all offspring produced by selffertilization
Mendels cross-fertilization of pea plants used true-breeding
organisms
Mendel cross-fertilized true-breeding, white-flowered plants
with true-breeding, purple-flowered plants
The parents used in a cross are part of the parental generation
(known as P)
The offspring of the P generation are members of the first filial
generation (F1)
Offspring of the F1 generation are members of the F2
generation
Figure 10-4 Cross of pea plants true-breeding for white or purple flowers
pollen
Parental
generation (P)
pollen
cross-fertilize
true-breeding,
purple-flowered
plant
true-breeding,
white-flowered
plant
First-generation
offspring (F1)
all purple-flowered
plant

Mendels flower color experiments
Mendel allowed the F1 generation to self-fertilize
The F2 was composed of 3/4 purple-flowered plants
and 1/4 white-flowered plants, a ratio of 3:1
The results showed that the white trait had not
disappeared in the F1 but merely was hidden
Mendel then self-fertilized the F2 generation
In the F3 generation, all the white-flowered F2 plants
produced white-flowered offspring
These proved to be true-breeding

In the F3 generation, self-fertilized purple-flowered
F2 plants produced two types of offspring
About 1/3 were true-breeding for purple
The other 2/3 were hybrids that produced both
purple- and white-flowered offspring, again, in the
ratio of 3 purple to 1 white
Therefore, the F2 generation included 1/4 truebreeding purple-flowered plants, 1/2 hybrid purple,
and 1/4 true-breeding white-flowered plants
Animation: Self-and Cross-Pollination of Pea Plants
Figure 10-5 Self-fertilization of F1 pea plants with purple flowers
Firstgeneration
offspring (F1)
self-fertilize
Secondgeneration
offspring (F2)
3/4 purple
1/4 white

The inheritance of dominant and recessive alleles on
homologous chromosomes can explain the results of
Mendels crosses
A five-part hypothesis explains the inheritance of single traits
1. Each trait is determined by pairs of genes; each organism has
two alleles for each gene, one on each homologous
chromosome
True-breeding white-flowered plants have different alleles than
true-breeding purple-flowered plants
2. When two different alleles are present in an organism, the

dominant allele may mask the recessive allele, even though
the recessive allele is still present
In edible peas, the purple-flower trait is dominant to the whiteflower trait

Mendels crosses (continued)
A five-part hypothesis explains the inheritance of
single traits (continued)
3. The pairs of alleles on homologous chromosomes
separate, or segregate, from each other during meiosis,
which is known as Mendels law of segregation
4. Chance determines which allele is included in a given
gametebecause homologous chromosomes separate
at random during meiosis; the distribution of alleles to
the gametes is also random

A five-part hypothesis explains the inheritance of
single traits (continued)
5. True-breeding organisms have two copies of the same
allele for a given gene and are homozygous for that
gene; hybrid organisms have two different alleles for a
given gene and are heterozygous for that gene
Figure 10-6 The distribution of alleles in gametes
homozygous parent
gametes
Gametes produced by a homozygous parent

heterozygous parent
gametes
Gametes produced by a heterozygous parent

There are two alleles for a given gene characteristic
(such as flower color)
Let P stand for the dominant purple-flowered allele: A
homozygous purple-colored plant has two alleles for
purple flower color (PP) and produces only P gametes
Let p stand for the recessive white-flowered allele: A
homozygous white-colored plant has two alleles for
white flower color (pp) and produces only p gametes

The inheritance of dominant and recessive alleles
on homologous chromosomes can explain the
results of Mendels crosses (continued)
A cross between a purple-flowered plant (PP) and a
white-flowered plant (pp) produces all purpleflowered F1 offspring, with a Pp genotype
Dominant P gametes from purple-flowered plants
combined with recessive p gametes from whiteflowered plants to produce hybrid purple-flowered
plants (Pp)

The F1 offspring were all heterozygous (Pp) for flower
color
When the F1 offspring were allowed to self-fertilize,
four types of gametes were produced from the Pp
parents
Sperm: Pp
Eggs: Pp

A heterozygous plant produces equal numbers of P
and p sperm and equal numbers of P and p eggs
When a Pp plant self-fertilizes, each type of sperm has
an equal chance of fertilizing each type of egg
Combining these four gametes into genotypes in every
possible way produces offspring PP, Pp, Pp, and pp
The probabilities of each combination (and therefore the
genotypic fraction each genotype is of the total offspring)
are 1/4 PP, 1/2 Pp, and 1/4 pp

The particular combination of the two alleles carried by
an individual is called the genotype
For example, PP or Pp
The physical expression of the genotype is known as

the phenotype (for example, purple or white flowers)
Figure 10-7a Gametes produced by homozygous parents
purple parent
PP
all P sperm and eggs

white parent
pp
all p sperm and eggs
Gametes produced by homozygous parents
Figure 10-7b Fusion of gametes produces F 1 offspring
F1 offspring
sperm
eggs
Pp
pP
or
Fusion of gametes produces F1 offspring
Figure 10-7c Fusion of gametes from the F1 generation produces F2 offspring
gametes from F1 Pp plants
F2 offspring
sperm
eggs
Pp
pP
pp
Fusion of gametes from the F1 generation

produces F2 offspring
PP

Simple genetic bookkeeping can predict genotypes
and phenotypes of offspring
The Punnett square method predicts offspring
genotypes and phenotypes from combinations of
parental gametes
1. First, assign letters to the different alleles of the
characteristic under consideration (uppercase for
dominant, lowercase for recessive)
2. Determine the gametes and their fractional proportions
(out of all the gametes) from both parents

Simple genetic bookkeeping can predict genotypes
and phenotypes of offspring (continued)
3. Write the gametes from each parent, together with their
fractional proportions, along each side of a 2 x 2 grid
(Punnett square)
4. Fill in the genotypes of each pair of combined gametes
in the grid, including the product of the fractions of each
gamete (e.g., 1/4 PP, 1/4 Pp and 1/4 pP, and 1/4 pp)

Simple genetic bookkeeping can predict
genotypes and phenotypes of offspring (continued)
5. Add together the fractions of any genotypes of the
same kind (1/4 Pp + 1/4 pP = 1/2 Pp total)
6. From the sums of all the different kinds of offspring
genotypes, create a genotypic fraction
1/4 PP, 1/2 Pp, 1/4 pp is in the ratio
1 PP : 2 Pp : 1 pp

Simple genetic bookkeeping can predict
genotypes and phenotypes of offspring (continued)
7. Based on dominant and recessive rules, determine the
phenotypic fraction
A genotypic ratio of 1 PP : 2 Pp : 1 pp yields 3 purpleflowered plants : 1 white-flowered plant
Animation: The Inheritance of Single Traits
Figure 10-8 Determining the outcome of a single-trait cross
Pp
self-fertilize
eggs
sperm
eggs
offspring
genotypes
genotypic
ratio
(1:2:1)
phenotypic
ratio
(3:1)
sperm
PP
PP
Pp
PP
Pp
purple
Pp
p
pP
pp
Punnett square of a single-trait cross

pP
pp
pp
white
Using probabilities to determine the offspring of a

single-trait cross

Mendels hypothesis can be used to predict the
outcome of new types of single-trait crosses
A test cross is used to deduce whether an organism
with a dominant phenotype is homozygous for the
dominant allele or heterozygous
1. Cross the unknown dominant-phenotype organism
(P_) with a homozygous recessive organism (pp)
2. If the dominant-phenotype organism is homozygous
dominant (PP), only dominant-phenotype offspring will
be produced (Pp)
3. If the dominant-phenotype organism is heterozygous
(Pp), approximately half the offspring will be of
recessive phenotype (pp)
Figure 10-9 Punnett square of a test cross

pollen
PP or Pp
sperm unknown
if PP
pp
all eggs
eggs
if Pp
p
all
sperm P
eggs
all Pp
sperm
Pp
pp

Mendel concluded the origination of single traits
inheritance
He then pursued more complex questions relative to
the inheritance of multiple traits
Initial experiments included crossbreeding plants
that differed in two traits
Seed color (yellow or green)
Seed shape (smooth or wrinkled)
Figure 10-10 Traits of pea plants studied by Gregor Mendel
Trait
Seed
shape
Seed
color
Pod
shape
Pod
color
Dominant form
Recessive form
smooth
wrinkled
yellow
green
inflated
constricted
green
yellow
purple
white
at leaf
junctions
at tips of
branches
tall
(about
6 feet)
dwarf
(about 8 to
16 inches)
Flower
color
Flower
location
Plant
size

From the many pea plant phenotypes, he chose
seed color (yellow vs. green peas) and seed shape
(smooth vs. wrinkled peas)
Yellow color is dominant to green color
Smooth shape is dominant to wrinkled
The allele symbols were assigned, as follows:

Y = yellow (dominant), y = green (recessive)
S = smooth (dominant), s = wrinkled (recessive)

The two-trait cross was between two true-breeding
varieties for each characteristic, one dominant for
both traits, the other recessive for both traits
P: SSYY (smooth, yellow) ssyy (wrinkled, green)
The SSYY plant produced only SY gametes, and the
ssyy plant produced only sy gametes
Therefore, the F1 consisted solely of SsYy individuals,
with smooth skins and yellow coloring

Mendel next allowed the F1 individuals to selffertilize: SsYy SsYy
Crossing the F1 plants yielded 315 plants with
smooth, yellow seeds; 101 with wrinkled, yellow
seeds; 108 with smooth, green seeds; and 32 with
wrinkled, green seeds
This is a ratio of approximately 9:3:3:1
Two-trait crosses of other traits produced similar

proportions of phenotype combinations
Figure 10-11 Predicting genotypes and phenotypes for a cross between parents that are heterozygous for two traits
Ss Yy
self-fertilize
eggs
SY
Sy
sY
sy
SSYY
SSYy
SsYY
SsYy
SSyY
SSyy
SsyY
Ssyy
SY
sperm
Sy
sY
sSYY
sSYy
ssYY
ssYy
sy
sSyY
sSyy
ssyY
Punnett square of a two-trait cross
ssyy
seed shape
seed color
phenotypic ratio
(9:3:3:1)
smooth
yellow
smooth yellow
smooth
green
smooth green
wrinkled
yellow
wrinkled yellow
wrinkled
green
wrinkled green
Using probabilities to determine the offspring

of a two-trait cross

Mendel hypothesized that traits are inherited
independently
Mendel predicted that if the two traits were inherited
independently, then for each trait, three-quarters of
the offspring should show the dominant phenotype
and one-quarter should show the recessive
phenotype
a 3:1 ratio, as he had found for the single trait flower
color

independently (continued)
He found 423 plants with smooth seeds
(of either color) and 133 with wrinkled seeds
(a ratio of about 3:1)
He found 416 plants produced yellow seeds
(of either shape) and 140 produced green seeds
(also about 3:1)

The independent inheritance of two or more traits is
called the law of independent assortment
Multiple traits are inherited independently because the
alleles of one gene are distributed to gametes
independently of the alleles for other genes
Independent assortment will occur when the traits
being studied are controlled by genes on different
pairs of homologous chromosomes

The physical basis of independent assortment has to
do with the way homologous pairs line up during
meiosis
Which of the two homologues is on top occurs
randomly for all pairs, so the homologues assort
randomly and independently of one another at
anaphase I
Animation: The Inheritance of Multiple Traits
Figure 10-12 Independent assortment of alleles
pairs of alleles on homologous

chromosomes in diploid cells
chromosomes replicate
replicated homologous
pair during metaphase of
meiosis I, orienting
like this
or like this
S
s
meiosis I
meiosis II
S
Y
Y
SY
s
y
y
sy
S
y
Sy
independent assortment produces four equally

likely allele combinations during meiosis
Y
sY
10.4 How Are Multiple Traits Inherited?.

In an unprepared world, genius may go
unrecognized
Mendels work was published in 1865 but went
unnoticed
Three biologistsCarl Correns, Hugo de Vries, and
Erich Tschermakindependently (of Mendel and each
other) rediscovered Mendels principles of inheritance
in 1900
Mendel was credited in new papers as laying the
groundwork of genetics 30 years previously

All Traits?
Each trait is completely controlled by a single gene
Only two possible alleles of each gene exist
One allele is completely dominant to the other,
recessive, allele
Most traits are influenced in more varied and subtle
ways

All Traits?
In incomplete dominance, the phenotype of the
heterozygotes is intermediate between the
phenotypes of the homozygotes
In the genes studied by Mendel, one allele was
dominant over the other, which was recessive
Some alleles, however, are incompletely dominant
over others
When the heterozygous phenotype is intermediate
between the two homozygous phenotypes, the pattern
of inheritance is called incomplete dominance

All Traits?
phenotypes of the homozygotes (continued)
Human hair texture is influenced by a gene with two
incompletely dominant alleles, H1 and H2
A person with two copies of the H1 allele has curly hair
Someone with two copies of the H2 allele has straight
hair
Heterozygotes (with the H1H2 genotype) have wavy hair

All Traits?
phenotypes of the homozygotes (continued)
If two wavy-haired people marry, their children could
have any of the three hair types: curly (H1H1), wavy
(H1H2), or straight (H2H2)
Figure 10-13 Incomplete dominance
mother
H1H2
H1
H1H2
H2
H1
sperm
father
eggs
H1H1
H1H2
H1H2
H2H2
H2

All Traits?
A single gene may have multiple alleles
An individual may have at most two different gene
alleles
A species may have multiple alleles for a given
characteristic
However, each individual still carries two alleles for this
characteristic

All Traits?
A single gene may have multiple alleles (continued)
The human blood types are an example of multiple
alleles of a single gene
Human blood group genes produce blood types A, B,
AB, and O
There are three alleles in this system: A, B, and O

All Traits?
Alleles A and B code for enzymes that add different
sugar molecules to the ends of glycoproteins that
protrude from red blood cells
Allele O codes for a nonfunctional enzyme that
doesnt add any sugar molecules
Blood types A, B, AB, and O arise as a result of the
actions of these alleles

All Traits?
Alleles A and B are dominant to allele O
People with AA or AO genotypes have blood type A;
people with BB or BO genotypes have blood type B;
people with OO genotypes have blood type O
AB individuals have both the A and the B allele, so they
produce both types of enzymes
Consequently, the plasma membranes of their red blood
cells have both A and B glycoproteins
When heterozygotes express the phenotypes of both of the
homozygotes (in this case, both A and B glycoproteins), the
pattern of inheritance is called codominance

All Traits?
People make antibodies to the type of glycoproteins
they lack
People with type A blood make B antibodies; people
with type B blood make A antibodies
People with type O blood make both type A and type B
antibodies; type AB blood groups make no antibodies

All Traits?
The antibodies cause red blood cells that bear foreign
glycoproteins to clump together and rupture
The presence of such antibodies dictates that blood
type must be determined and matched carefully
before a blood transfusion is made

All Traits?
Type O blood, lacking any sugars, is not attacked by
antibodies in A, B, or AB blood, so it can be transfused
safely to all
Type O blood is called the universal donor
The A and B antibodies in type O blood become too dilute
to cause problems in the recipient of transfused type O
blood
Because people with type O blood produce both A and

B antibodies, they can receive blood only from other
type O donors
Their antibodies would attack any donated blood cells
bearing A or B glycoproteins
Table 10-1

All Traits?
Many traits are influenced by several genes
Some characteristics show a range of continuous
phenotypes instead of discrete, defined phenotypes
Examples of this include height, skin color, and body
build in humans, and grain color in wheat
These traits are influenced by interactions among two
or more genes through a process called polygenic
inheritance

All Traits?
Polygenic inheritance
Traits affected by polygenic inheritance are often
strongly affected by the environment, further blurring
the differences among phenotypes
According to research, human height is controlled by
at least 180 genes
Human skin color is controlled by at least three
genes, each with pairs of incompletely dominant
alleles
Figure 10-14 Polygenic inheritance of skin color in humans
Humans show a wide range of skin tones,

from almost white to very dark brown

All Traits?
Single genes typically have multiple effects on
phenotype
Some alleles of a characteristic may have multiple
phenotypic effects (pleiotropy) influencing a number
of gene loci
The SRY gene on the Y chromosome in male
humans encodes a protein that activates other genes
The SRY gene stimulates development of gonads into
testes, which in turn stimulates development of the
prostate, seminal vesicles, penis, and scrotum
Figure 10-15 Nude mice

All Traits?
The environment influences the expression of genes
The environment in which an organism lives
profoundly affects its phenotype
Newborn Siamese cats demonstrate the effect of
environment on phenotype
A Siamese cat has the genotype for dark fur all over its
body
However, the enzyme that produces the dark pigment
is inactive at temperatures above 93F (34C)

All Traits?
The environment influences the expression of genes
(continued)
When kittens are in the all-encompassing warmth of
their mothers uterus, the enzyme is inactive and they
are born with pale fur everywhere on their bodies
After birth, the ears, nose, paws, and tail become
cooler than the rest of the body, and dark pigment is
produced there in the pattern characteristic of the
breed
Figure 10-16 Environmental influence on phenotype

Genes on the same chromosome tend to be
inherited together
Mendels law of independent assortment works only
for genes whose loci are on different pairs of
homologous chromosomes
Alleles that are on the same chromosome do not line
up independently of one another on the metaphase
plate and are not separated at anaphase I
Genes on the same chromosome tend to be inherited
together, a phenomenon called gene linkage

inherited together (continued)
An example of genetic linkage is flower color and
pollen in sweet peas
The genes for flower color and pollen shape are linked;
that is, their loci are on the same chromosome
Purple flower color is dominant to red; long pollen
shape is dominant to round
Let P = purple flowers and p = red flowers
Let L = long pollen shape and l = round shape

inherited together (continued)
The pattern of inheritance for linked genes is different
from genes that assort independently
What are the expected gametes from parent PpLl,
where P is linked with L and p is linked with l ?
Independent assortment would yield gametes in a
genetic proportion of 1/4 PL, 1/4 Pl, 1/4 pL, 1/4 pl
Instead, the gametes are mostly PL and pl
Figure 10-17 Linked genes on homologous chromosomes in the sweet pea
flower-color gene
pollen-shape gene
purple
allele, P
long
allele, L
red
allele, p
round
allele, l

Crossing over creates new combinations of linked
alleles
Genes on the same chromosome do not always stay
together
Crossing over involves the exchange of DNA between
chromatids of paired homologous chromosomes in
synapsis (the tight association of homologous
chromosomes on the metaphase plate)

alleles (continued)
The farther apart two linked gene loci are on a
chromosome, the more likely crossing over is to
occur between them
Crossing over occurs so often between loci far apart
on a chromosome that they appear to assort
independently

alleles (continued)
They appear to assort randomly because roughly
as many gametes are produced with the genes
exchanged by crossing over as are produced in
which the original, linked combination of alleles
occurs
Crossing over, or genetic recombination, in
prophase I of meiosis creates new gene
combinations
Figure 10-18a Duplicated chromosomes in prophase of meiosis I
flower-color gene
pollen-shape gene
sister
chromatids
purple allele, P
long allele, L
homologous
chromosomes
(duplicated)
at meiosis I
sister
chromatids
red allele, p
round allele, l
Duplicated chromosomes in prophase of meiosis I

Figure 10-18b Crossing over during prophase I
Crossing over during prophase I
Figure 10-18c Homologous chromosomes separate at anaphase I
recombined
chromatids
unchanged
chromatids
Homologous chromosomes separate at anaphase I
Figure 10-18d Unchanged and recombined chromosomes after meiosis II
recombined
chromosomes
unchanged
chromosomes
Unchanged and recombined chromosomes after

meiosis II
10.7 How Are Sex and Sex-Linked Traits Inherited?

Animals have a set of sex chromosomes that dictate
gender
In mammals, females have two X chromosomes
In mammals, males have an X chromosome and a
Y chromosome
The Y chromosome is much smaller than the X
chromosome
A small section of the X and Y chromosomes is

homologous, allowing them to pair in prophase I and
segregate during meiosis
The rest of the (non-sex) chromosomes occur in
identical pairs and are called autosomes
Figure 10-19 Human sex chromosomes
Y chromosome
X chromosome

In mammals, the sex of an offspring is determined by
the sex chromosome in the sperm
For organisms in which males are XY and females
are XX, the sex chromosome carried by the sperm
determines the sex of the offspring
During sperm formation, each sperm receives either the
X or the Y chromosome, along with a copy of each of
the autosomes
Because the female has only X sex chromosomes, the
unfertilized egg must have an X chromosome
If the egg is fertilized by a sperm with a Y chromosome,
a male results; if fertilized by an X-bearing sperm, a
female is produced
Figure 10-20 Sex determination in mammals
female parent
X1
X2
eggs
X1
X1
male parent
Y
X2
Xm
Xm
Xm
sperm
Xm
X2
female offspring
Y
X1
X2
male offspring

Sex-linked genes are found only on the X or only on
the Y chromosome
Genes carried on one sex chromosome, but not on
the other, are sex-linked
In humans, the X chromosome is much larger than the
Y and carries over 1,000 genes
In contrast, the human Y chromosome is smaller and
carries only 78 genes

the Y chromosome (continued)
During embryonic life, the action of the Y-linked gene
SRY sets in motion the entire male developmental
pathway
Under normal conditions, SRY causes the male gender
to be linked 100 percent to the Y chromosome

Few of the genes on the X chromosome have a
specific role in female reproduction
Most of the genes on the X chromosome have no
counterpart on the Y chromosome
Some genes found only on the X chromosome are
important to both sexes, such as genes for color vision,
blood clotting, and certain structural proteins in muscles

The X and the Y have very few genes in common
Females (XX) can be homozygous or heterozygous
for a characteristic
Males (XY) have only one copy of the genes on the
X or the Y

Because females have two X chromosomes,
recessive sex-linked genes on an X chromosome
may or may not be expressed
Because males, with only one X chromosome, have
no second copy to mask recessive genes, they fully
express all the X-linked alleles they have, whether
those alleles are dominant or recessive

Red-green color blindness in humans is a sex-linked
trait
Color blindness is caused by recessive alleles of
either of two genes located on the X chromosome
The normal, dominant alleles of these genes (called
C) encode proteins that allow one set of eye cones to
be most sensitive to red light and another to be most
sensitive to green light

There are several defective recessive alleles of these
genes, called c
The afflicted person cannot distinguish between red
and green
A man can have the genotype CY or cY, which means

that he has a color-vision allele C or c on his
X chromosome and no corresponding gene on his
Y chromosome

He will have normal color vision if his X chromosome
bears the C allele, or be color-blind if his X
chromosome bears the c allele
A woman may be CC, Cc, or cc because she has two
X chromosomes that each can carry an allele for the
trait, and will only be color-blind if her genotype is cc

A color-blind man (cY) will pass his defective allele
only to his daughters because only his daughters
inherit his X chromosome
A heterozygous woman (Cc), although she has
normal color vision, will pass her defective allele to
half her sons, who will be color-blind
Figure 10-21 Sex-linked inheritance of red-green color deficiency
female parent
XC
Xc
eggs
Normal color vision

XC
The individual cannot distinguish red from green
XC
male parent
Y
XC
Xc
XC
XC
female offspring
sperm
XC
Xc
XC
Xc
male offspring
Red-green color blindness
Expected children of a man with normal color vision

(CY), and a heterozygous woman (Cc)

Many human diseases are influenced by genetics
Human geneticists trying to understand the relationship
between genetics and disease search medical, historical,
and family records to study past crosses
Geneticists studying humans are proscribed from using
breeding techniques employed with plants and other
animals
Records of gene expression over several generations of

a family can be diagrammed
Records extending across several generations can be
arranged in the form of family pedigrees, diagrams that
show the genetic relationships between a set of related
individuals

Many human diseases are influenced by genetics
(continued)
Pedigree analysis is often combined with molecular
genetics technology to elucidate gene action and
expression
As a result, scientists now know the genes
responsible for sickle-cell anemia, hemophilia,
muscular dystrophy, Marfan syndrome, and cystic
fibrosis
Figure 10-22 Family pedigrees
How to read pedigrees

I, II, III generations
II
male
III
female
parents
A pedigree for a dominant trait

offspring
I
or
shows trait
or
does not show trait
III
or
known carrier (heterozygote) for

recessive trait
IV
or
cannot determine the genotype from

this pedigree
II
A pedigree for a recessive trait

Some human genetic disorders are caused by
single genes
Common traits such as freckles, cleft chin, and
dimples are inherited in a simple Mendelian fashion
Each trait appears to be controlled by a single gene
with a recessive and a dominant allele
Some disorders are caused by defective alleles of a
single gene and may be inherited as either a recessive
or a dominant trait

single genes (continued)
recessive alleles
New alleles produced by mutation usually code for
nonfunctional proteins
Alleles coding for nonfunctional proteins are recessive to
those coding for functional ones
The presence of one normal allele may generate enough
functional protein to enable heterozygotes to be
phenotypically indistinguishable from homozygotes with
two normal alleles

single genes (continued)
recessive alleles (continued)
Heterozygous individuals are carriers of a recessive
genetic trait (but otherwise have a normal phenotype)
Recessive genes are more likely to occur in a
homozygous combination (expressing the defective
phenotype) when related individuals have children
Close relatives are more likely than the general
population to each be heterozygous for a particular
recessive allele and, so, are more likely to produce the
homozygous recessive phenotype

Albinism results from a defect in melanin production
Melanin is the dark pigment that colors skin cells
Melanin is produced by the enzyme tyrosinase
An allele known as TYR (for tyrosinase) encodes a
defective tyrosinase protein in skin cells, producing
no melanin and a condition called albinism
Humans and other mammals who are homozygous

for TYR have no color in their skin, fur, or eyes (the
skin and hair appear white, and the eyes are pink)
Figure 10-23 Albinism
Human
Wallaby

Sickle-cell anemia is caused by a defective allele for
hemoglobin synthesis
Hemoglobin is an oxygen-transporting protein found in
red blood cells
A mutant hemoglobin gene causes hemoglobin
molecules in blood cells to clump together
Red blood cells take on a sickle (crescent) shape and
easily break
Blood clots can form, leading to oxygen starvation of
downstream tissues and paralysis
The condition is known as sickle-cell anemia

hemoglobin synthesis (continued)
People homozygous for the sickle-cell allele
synthesize only defective hemoglobin and therefore
produce mostly sickled cells
Although heterozygotes have about half normal and
half abnormal hemoglobin, they usually have few
sickled cells and are not seriously affected
Because only people who are homozygous for the
sickle-cell allele usually show symptoms, sickle-cell
anemia is considered a recessive disorder

hemoglobin synthesis (continued)
About 5 to 25% of sub-Saharan Africans and 8% of
African Americans are heterozygous for sickle-cell
anemia, but the allele is very rare in Caucasians
The large proportion of heterozygotes in Africa exists
because heterozygotes have some resistance to the
parasite that causes malaria
The rarity of heterozygotes in Caucasians corresponds
with the rarity of malaria in northern climes, where
immunity (and therefore, heterozygosity) has no
selective advantage
Figure 10-24 Sickle-cell anemia
Normal red blood cells
Sickled red blood cells

dominant alleles
A dominant disease can be transmitted to offspring if
at least one parent suffers from the disease and lives
long enough to reproduce
Dominant disease alleles also arise as new mutations
in the DNA of eggs or sperm of unaffected parents

dominant alleles (continued)
Various mechanisms create an alleles dominance
over the normal allele
Some dominant alleles encode an abnormal protein
that interferes with the function of the normal protein
Some dominant alleles encode proteins that carry out
toxic reactions
An allele may be dominant if it encodes a protein
that is overactive or is active at inappropriate times
and places

Huntington disease is caused by a defective protein
that kills cells in specific brain regions
Huntington disease is a dominant disorder that causes
a slow, progressive deterioration of parts of the brain
The disease results in a loss of coordination, flailing
movements, personality disturbances, and eventual death
The disease becomes manifest in adulthood, ensuring its

maintenance in the population
The gene encodes for a protein, called huntingtin, of
unknown function
Mutant huntingtin seems both to interfere with the action
of normal huntingtin and to form large aggregates in nerve
cells that ultimately kill the cells

Some human genetic disorders are sex-linked
The X chromosome contains many genes that have
no counterpart on the Y chromosome
Because males have only one X chromosome, they
have no other allele to exert dominance over a sexlinked (X-linked) allele causing disease
Consequently, sex-linked diseases tend to occur in
males

(continued)
Sex-linked disorders caused by a recessive allele
have a unique pattern of inheritance
A son receives his X chromosome from his mother and
passes it on only to his daughters, since the gene
doesnt exist on his Y chromosome
Sex-linked genes typically skip generations because the
affected male passes the trait to a phenotypically normal
carrier daughter, who in turn bears affected sons
Several defective alleles for characteristics encoded on
the X chromosome are known, including red-green color
blindness and hemophilia

(continued)
Hemophilia is caused by a recessive allele on the X
chromosome that results in a deficiency in one of the
proteins needed for blood clotting
Hemophiliacs often have anemia owing to blood loss,
and bruise easily
The hemophilia gene in Queen Victoria of England was
passed among the royal families of Europe
Figure 10-25 Hemophilia among the royal families of Europe
Edward
Duke of Kent
Albert
Prince
of SaxeCoburg-Gotha
Edward VII
King of
England
unaffected male
hemophiliac male
unaffected female
carrier female
Victoria
Princess of
Saxe-Coburg
Victoria
Queen
of England
Alexandra
of Denmark
Leopold
Duke
of Albany
Louis IV
Helen
Princess of
Grand Duke of
Waldeck-Pyrmont Hesse-Darmstadt
Alice
Princess
of Hesse
Beatrice
several
unaffected
children
Henry
Prince of
Battenburg
present British
royal family
(unaffected)
Victoria Elizabeth Alexandra
Mary
Tsarina
carrier
daughter
and
hemophiliac
grandson
Nicholas II Frederick Ernest Mary Irene

of Russia
Victoria
Olga
Tatiana
Maria
Anastasia
Alexander Alfonso Victoria Leopold Maurice

Queen
Albert
XII
of Spain
?
Alexis
Tsarevitch
Alfonso
Crown
Prince
Juan
Beatrice
?
died
Marie Jaime Gonzalo
in
infancy

abnormal numbers of chromosomes
The incorrect separation of chromosomes or
chromatids in meiosis is known as nondisjunction
Nondisjunction causes gametes to have too many and
too few chromosomes
Most embryos that arise from fusion of gametes with

abnormal chromosome numbers spontaneously
abort, but some survive to birth and beyond
Figure 10-26 Nondisjunction during meiosis
Nondisjunction
during meiosis I
Normal meiosis
Nondisjunction
during meiosis II
Parent cell
Meiosis I
Meiosis II
n
n1
n1
n1
n1
n1
n1

Some genetic disorders are caused by abnormal
numbers of sex chromosomes
Nondisjunction of sex chromosomes in males or
females produces abnormal numbers of X and Y
chromosomes
Nondisjunction of sex chromosomes in males
produces sperm with either no sex chromosomes
(called O sperm), or two sex chromosomes (sperm
may be XX, YY, or XY)
Nondisjunction of sex chromosomes in females can
produce eggs that are O or XX eggs instead of eggs
with one X chromosome

numbers of sex chromosomes (continued)
When normal gametes fuse with these defective
sperm or eggs, the zygotes have normal numbers of
autosomes but abnormal numbers of sex chromosomes
The most common abnormalities are XO, XXX, XXY,
and XYY
Some sex chromosome abnormalities allow affected
individuals to survive
The genes on the X chromosome are so essential to
survival, any embryo without at least one X chromosome
spontaneously aborts very early in development

Turners syndrome (XO) occurs in females with only
one X chromosome
At puberty, hormone deficiencies prevent XO females
from menstruating or developing secondary sexual
characteristics
Hormone treatment promotes physical development,
but because affected women lack mature eggs, they
remain infertile

Turners syndrome (XO) occurs in females with only
one X chromosome (continued)
Additional symptoms include short stature, folds of skin
around the neck, and increased risk of cardiovascular
disease, kidney defects, and hearing loss
Because they have only one X chromosome, women
with Turners syndrome are more susceptible to
recessive disorders such as red-green color blindness
and hemophilia

Trisomy X (XXX) results in a fertile normal woman
with an extra X chromosome
Most affected women show no abnormal symptoms
There is an increased chance of learning disabilities
and a tendency toward tallness associated with trisomy
X
By some unknown mechanism that prevents an extra X
chromosome from being included in their eggs, women
with trisomy X bear normal XX and XY children

Men with Klinefelter syndrome (XXY) have an extra
X chromosome
Most of these males show no symptoms, although some
may show mixed secondary sexual characteristics,
including partial breast development, broadening of the
hips, and small testes
XXY men are often infertile because of low sperm count,
but are not impotent
Diagnoses are made when an XXY male and his partner
seek medical help because of their inability to have
children

Males with Jacob syndrome (XYY) have an extra Y
chromosome (XYY)
Men with this malady have high levels of testosterone,
tend to develop severe acne, and may be exceptionally
tall
Jacob syndrome occurs in about 1 in every 1,000 males
Slightly increased likelihood of learning disabilities
Table 10-2

numbers of autosomes
Nondisjunction of autosomes can occur during meiosis
in the father or mother, resulting in eggs or sperm that
are missing an autosome or that have two copies of
an autosome
Fusion of these gametes with a normal sperm or egg
results in a zygote with one or three copies of the
affected autosome
Single-copy autosome embryos usually abort very early
in development

numbers of autosomes (continued)
Nondisjunction of autosomes can occur during meiosis
in the father or mother, resulting in eggs or sperm that
are missing an autosome or that have two copies of
an autosome (continued)
Embryos with three copies of an autosome (trisomy)
also usually spontaneously abort; however, a small
fraction of embryos with three copies of chromosomes
13, 18, or 21 survive to birth
The frequency of nondisjunction increases with the age
of the parents

numbers of autosomes (continued)
In trisomy 21 (Down syndrome), afflicted individuals
have three copies of chromosome 21
Occurs in about 1 out of every 800 births
Down syndrome includes several distinctive physical
characteristics, including weak muscle tone, a small
mouth held partially open because it cannot
accommodate the tongue, and distinctively shaped
eyelids
Down syndrome is also characterized by low resistance
to infectious diseases, heart malformations, and varying
degrees of mental retardation, often severe
Figure 10-27 Trisomy 21, or Down syndrome
Karyotype showing three

copies of chromosome 21
Girl with Down syndrome

Patterns of Inheritance: With Physiology

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Patterns of Inheritance: With Physiology

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BIOLOGY Life on Earth

WITH PHYSIOLOGY Tenth Edition

2014 Pearson Education, Inc.

Chapter 10 At a Glance (continued)

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10.1 What Is the Physical Basis of Inheritance?

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10.1 What Is the Physical Basis of Inheritance?

The location of a gene on a chromosome is called its

10.1 What Is the Physical Basis of Inheritance?

10.1 What Is the Physical Basis of Inheritance?

10.1 What Is the Physical Basis of Inheritance?

Figure 10-1 The relationships among genes, alleles, and chromosomes

Each chromosome carries a different

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10.2 How Were the Principles of Inheritance

Figure 10-2 Gregor Mendel

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10.2 How Were the Principles of Inheritance

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10.2 How Were the Principles of Inheritance

Figure 10-3 Flowers of the edible pea

Stamens (male, produce pollen

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10.2 How Were the Principles of Inheritance

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10.2 How Were the Principles of Inheritance

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10.2 How Were the Principles of Inheritance

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10.2 How Were the Principles of Inheritance

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10.3 How Are Single Traits Inherited?

10.3 How Are Single Traits Inherited?

10.3 How Are Single Traits Inherited?

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Animation: Self-and Cross-Pollination of Pea Plants

Figure 10-5 Self-fertilization of F1 pea plants with purple flowers

10.3 How Are Single Traits Inherited?

2. When two different alleles are present in an organism, the

10.3 How Are Single Traits Inherited?

10.3 How Are Single Traits Inherited?

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Figure 10-6 The distribution of alleles in gametes

Gametes produced by a homozygous parent

Gametes produced by a heterozygous parent

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10.3 How Are Single Traits Inherited?

10.3 How Are Single Traits Inherited?

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10.3 How Are Single Traits Inherited?

10.3 How Are Single Traits Inherited?

10.3 How Are Single Traits Inherited?

The physical expression of the genotype is known as

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Figure 10-7a Gametes produced by homozygous parents

all P sperm and eggs

all p sperm and eggs

Gametes produced by homozygous parents

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Figure 10-7b Fusion of gametes produces F 1 offspring

Fusion of gametes produces F1 offspring

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