Download MENDEL`S LAWS

Chapter 9
Introduction
Patterns of Inheritance
 Dogs are one of man’s longest genetic
experiments.
– Over thousands of years, humans have chosen and
mated dogs with specific traits.
– The result has been an incredibly diverse array of dogs
with distinct
– body types and
– behavioral traits.
PowerPoint Lectures for
Campbell Biology: Concepts & Connections, Seventh Edition
Reece, Taylor, Simon, and Dickey
Lecture by Edward J. Zalisko
© 2012 Pearson Education, Inc.
© 2012 Pearson Education, Inc.
Figure 9.0_1
Figure 9.0_2
Chapter 9: Big Ideas
Mendel’s Laws
The Chromosomal Basis
of Inheritance
Variations on
Mendel’s Laws
Sex Chromosomes and
Sex-Linked Genes
9.1 The science of genetics has ancient roots
MENDEL’S LAWS
 Pangenesis, proposed around 400 BCE by
Hippocrates, was an early explanation for inheritance
that suggested that
– particles called pangenes came from all parts of the
organism to be incorporated into eggs or sperm and
– characteristics acquired during the parents’ lifetime could
be transferred to the offspring.
 Aristotle rejected pangenesis and argued that instead
of particles, the potential to produce the traits was
inherited.
© 2012 Pearson Education, Inc.
© 2012 Pearson Education, Inc.
1
Figure 9.1
9.1 The science of genetics has ancient roots
 The idea that hereditary materials mix in forming
offspring, called the blending hypothesis, was
– suggested in the 19th century by scientists studying
plants but
– later rejected because it did not explain how traits that
disappear in one generation can reappear in later
generations.
© 2012 Pearson Education, Inc.
9.2 Experimental genetics began in an abbey
garden
9.2 Experimental genetics began in an abbey
garden
 Heredity is the transmission of traits from one
generation to the next.
 In 1866, Mendel
 Genetics is the scientific study of heredity.
 Gregor Mendel
– began the field of genetics in the 1860s,
– deduced the principles of genetics by breeding garden
peas, and
– relied upon a background of mathematics, physics, and
chemistry.
© 2012 Pearson Education, Inc.
Figure 9.2A
– correctly argued that parents pass on to their offspring
discrete “heritable factors” and
– stressed that the heritable factors (today called genes),
retain their individuality generation after generation.
 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
flowers, is a trait.
© 2012 Pearson Education, Inc.
9.2 Experimental genetics began in an abbey
garden
 True-breeding varieties result when self-fertilization
produces offspring all identical to the parent.
 The offspring of two different varieties are hybrids.
 The cross-fertilization is a hybridization, or genetic
cross.
 True-breeding parental plants are the P generation.
 Hybrid offspring are the F1 generation.
 A cross of F1 plants produces an F2 generation.
© 2012 Pearson Education, Inc.
2
Figure 9.2B
Figure 9.2C_s1
White
1 Removal of
stamens
Stamens
Carpel
Petal
2 Transfer
Purple of pollen
Parents
(P)
Carpel
Stamen
Figure 9.2C_s2
Figure 9.2C_s3
White
White
1 Removal of
1 Removal of
stamens
stamens
Stamens
Carpel
Parents
(P)
Stamens
Carpel
2 Transfer
Purple of pollen
Parents
(P)
2 Transfer
Purple of pollen
3 Carpel matures
3 Carpel matures
into pea pod
into pea pod
4 Seeds from
pod planted
Offspring
(F1)
Figure 9.2D
Figure 9.2D_1
Character
Traits
Dominant
Recessive
Character
Flower color
Purple
Traits
Dominant
Recessive
Purple
White
Axial
Terminal
Yellow
Green
Round
Wrinkled
White
Flower color
Flower position
Axial
Terminal
Yellow
Green
Round
Wrinkled
Inflated
Constricted
Green
Yellow
Tall
Dwarf
Seed color
Flower position
Seed shape
Pod shape
Pod color
Stem length
Seed color
Seed shape
3
Figure 9.2D_2
9.3 Mendel’s law of segregation describes the
inheritance of a single character
Traits
Character
Dominant
Recessive
 A cross between two individuals differing in a
single character is a monohybrid cross.
Pod shape
Inflated
Constricted
Pod color
Green
Yellow
 Mendel performed a monohybrid cross between a
plant with purple flowers and a plant with white
flowers.
– The F1 generation produced all plants with purple
flowers.
Stem length
– A cross of F1 plants with each other produced an F2
generation with ¾ purple and ¼ white flowers.
Tall
Dwarf
© 2012 Pearson Education, Inc.
Figure 9.3A_s1
Figure 9.3A_s2
The Experiment
P generation
(true-breeding
parents)
The Experiment
P generation
(true-breeding
parents)

Purple
flowers

Purple
flowers
White
flowers
F1 generation
Figure 9.3A_s3
The Experiment
P generation
(true-breeding
parents)
F1 generation
White
flowers
All plants have
purple flowers
Fertilization
among F1 plants
(F1  F1)
F2 generation
3
4
All plants have
purple flowers
9.3 Mendel’s law of segregation describes the
inheritance of a single character

Purple
flowers
White
flowers
1 of plants
of plants
4
have purple flowers have white flowers
 The all-purple F1 generation did not produce light
purple flowers, as predicted by the blending
hypothesis.
 Mendel needed to explain why
– white color seemed to disappear in the F1 generation
and
– white color reappeared in one quarter of the F2
offspring.
 Mendel observed the same patterns of inheritance
for six other pea plant characters.
© 2012 Pearson Education, Inc.
4
9.3 Mendel’s law of segregation describes the
inheritance of a single character
 Mendel developed four hypotheses, described
below using modern terminology.
1. Alleles are alternative versions of genes that account
for variations in inherited characters.
9.3 Mendel’s law of segregation describes the
inheritance of a single character
3. If the alleles of an inherited pair differ, then one
determines the organism’s appearance and is called the
dominant allele. The other has no noticeable effect on
the organism’s appearance and is called the recessive
allele.
– The phenotype is the appearance or expression of a trait.
2. For each characteristic, an organism inherits two
alleles, one from each parent. The alleles can be the
same or different.
– The genotype is the genetic makeup of a trait.
– The same phenotype may be determined by more than one
genotype.
– A homozygous genotype has identical alleles.
– A heterozygous genotype has two different alleles.
© 2012 Pearson Education, Inc.
© 2012 Pearson Education, Inc.
9.3 Mendel’s law of segregation describes the
inheritance of a single character
Figure 9.3B_s1
The Explanation
P generation
4. A sperm or egg carries only one allele for each inherited
character because allele pairs separate (segregate) from
each other during the production of gametes. This
statement is called the law of segregation.
Genetic makeup (alleles)
White flowers
Purple flowers
PP
pp
Gametes
All P
All p
 Mendel’s hypotheses also explain the 3:1 ratio in the
F2 generation.
– The F1 hybrids all have a Pp genotype.
– A Punnett square shows the four possible combinations
of alleles that could occur when these gametes combine.
© 2012 Pearson Education, Inc.
Figure 9.3B_s2
Figure 9.3B_s3
The Explanation
P generation
The Explanation
Genetic makeup (alleles)
White flowers
Purple flowers
PP
pp
Gametes
All P
P generation
Gametes
All p
F1 generation
(hybrids)
Genetic makeup (alleles)
White flowers
Purple flowers
PP
pp
All P
All p
F1 generation
(hybrids)
All Pp
Gametes
1
2
P
All Pp
1
2
p
Gametes
1
2
P
Alleles
segregate
1
2
p
Fertilization
Sperm from F1 plant
F2 generation
P
Phenotypic ratio
3 purple : 1 white
Genotypic ratio
1 PP : 2 Pp : 1 pp
p
P
PP
Pp
Eggs
from F1
plant
p
Pp
pp
5
Figure 9.3B_4
9.4 Homologous chromosomes bear the alleles
for each character
F2 generation
 A locus (plural, loci) is the specific location of a
gene along a chromosome.
Sperm from F1 plant
Phenotypic ratio
3 purple : 1 white
P
Eggs
from F1
plant
Genotypic ratio
p
1 PP : 2 Pp : 1 pp
P
p
PP
Pp
 For a pair of homologous chromosomes, alleles of
a gene reside at the same locus.
– Homozygous individuals have the same allele on both
homologues.
Pp
pp
– Heterozygous individuals have a different allele on
each homologue.
© 2012 Pearson Education, Inc.
Figure 9.4
9.5 The law of independent assortment is
revealed by tracking two characters at once
Gene loci
a
P
B
Dominant
allele
 A dihybrid cross is a mating of parental varieties
that differ in two characters.
 Mendel performed the following dihybrid cross with
the following results:
Homologous
chromosomes
P
b
a
aa
Homozygous
for the
recessive
allele
Genotype: PP
Homozygous
for the
dominant
allele
Recessive
allele
Bb
Heterozygous,
with one dominant
and one recessive
allele
– P generation: round yellow seeds  wrinkled green seeds
– F1 generation: all plants with round yellow seeds
– F2 generation:
– 9/16 had round yellow seeds
– 3/16 had wrinkled yellow seeds
– 3/16 had round green seeds
– 1/16 had wrinkled green seeds
© 2012 Pearson Education, Inc.
Figure 9.5A
Figure 9.5A_1
P generation RRYY
Gametes RY
F1 generation
rryy

ry
1
4
RY
1
4
rY
1
4
Ry
1
4
ry
Sperm
1
2
1
2
F2 generation
RY
1
2
ry
RY
Eggs
1
2
ry
1
4
RY
1
4
rY
Eggs
1
4
Ry
1
4
ry
RRYY
RrYY
RRYy
RrYy
RrYY
rrYY
RrYy
rrYy
RRYy
RrYy
The hypothesis of dependent assortment
Data did not support; hypothesis refuted
RrYy
rrYy
rryy
P generation RRYY
Sperm
RrYy
RRyy
Rryy
Rryy
rryy
Gametes RY
9
16

ry
Yellow
round
3
16
Green
round
3
16
Yellow
wrinkled
1
16
Green
wrinkled
F1 generation
RrYy
The hypothesis of independent assortment
Actual results; hypothesis supported
6
Figure 9.5A_2
Figure 9.5A_3
RrYy
F1 generation
F1 generation
RrYy
Sperm
1
4
Sperm
1
2
1
2
F2 generation
RY
1
2
ry
RY
1
4
rY
RY
Eggs
1
2
1
4
Eggs
ry
1
4
1
4
RY
rY
1
4
Ry
1
4
ry
RRYY
RrYY
RRYy
RrYy
RrYY
rrYY
RrYy
rrYy
Ry
RRYy
RrYy
RRyy
Rryy
ry
RrYy
The hypothesis of dependent assortment
Data did not support; hypothesis refuted
1
4
rrYy
Rryy
rryy
9
16
Yellow
round
3
16
Green
round
3
16
Yellow
wrinkled
1
16
Green
wrinkled
The hypothesis of independent assortment
Actual results; hypothesis supported
Figure 9.5B
Figure 9.5B_1
Blind
Blind
Blind
Phenotypes
Black coat,
normal vision
B_N_
Genotypes
Black coat,
blind (PRA)
B_nn
Chocolate coat,
normal vision
bbN_
Phenotypes
Chocolate coat,
blind (PRA)
bbnn
Genotypes
Black coat,
normal vision
B_N_
Black coat,
blind (PRA)
B_nn
Mating of double heterozygotes (black coat, normal vision)
BbNn
BbNn

Blind
Blind
Blind
Phenotypic ratio
of the offspring
9
Black coat,
normal vision
3
Black coat,
blind (PRA)
3
Chocolate coat,
normal vision
1
Chocolate coat,
blind (PRA)
Phenotypes
Genotypes
Figure 9.5B_2
Chocolate coat,
normal vision
bbN_
Chocolate coat,
blind (PRA)
bbnn
9.5 The law of independent assortment is
revealed by tracking two characters at once
 Mendel needed to explain why the F2 offspring
Mating of double heterozygotes (black coat, normal vision)
BbNn
BbNn

– had new nonparental combinations of traits and
– a 9:3:3:1 phenotypic ratio.
Blind
Phenotypic
ratio of the
offspring
9
Black coat,
normal vision
Blind
1
3
3
Black coat, Chocolate coat, Chocolate coat,
blind (PRA)
blind (PRA) normal vision
 Mendel
– suggested that the inheritance of one character has no
effect on the inheritance of another,
– suggested that the dihybrid cross is the equivalent to two
monohybrid crosses, and
– called this the law of independent assortment.
© 2012 Pearson Education, Inc.
7
9.5 The law of independent assortment is
revealed by tracking two characters at once
9.6 Geneticists can use the testcross to determine
unknown genotypes
 The following figure demonstrates the law of
independent assortment as it applies to two
characters in Labrador retrievers:
 A testcross is the mating between an individual of
unknown genotype and a homozygous recessive
individual.
– black versus chocolate color,
– normal vision versus progressive retinal atrophy.
 A testcross can show whether the unknown
genotype includes a recessive allele.
 Mendel used testcrosses to verify that he had truebreeding genotypes.
 The following figure demonstrates how a testcross
can be performed to determine the genotype of a
Lab with normal eyes.
© 2012 Pearson Education, Inc.
© 2012 Pearson Education, Inc.
Figure 9.6
9.7 Mendel’s laws reflect the rules of probability
What is the genotype of the black dog?

Testcross
Genotypes
B_?
bb
Two possibilities for the black dog:
BB
B
Gametes
b
Offspring
Bb
or
Bb
All black
b
 Using his strong background in mathematics,
Mendel knew that the rules of mathematical
probability affected
– the segregation of allele pairs during gamete formation
and
– the re-forming of pairs at fertilization.
B
b
Bb
bb
1 black : 1 chocolate
 The probability scale ranges from 0 to 1. An event
that is
– certain has a probability of 1 and
– certain not to occur has a probability of 0.
© 2012 Pearson Education, Inc.
9.7 Mendel’s laws reflect the rules of probability
Figure 9.7
F1 genotypes
Bb male
Bb female
 The probability of a specific event is the number of
ways that event can occur out of the total possible
outcomes.
Formation
of eggs
1
2
 Determining the probability of two independent
events uses the rule of multiplication, in which
the probability is the product of the probabilities for
each event.
 The probability that an event can occur in two or
more alternative ways is the sum of the separate
probabilities, called the rule of addition.
Formation
of sperm
1
2
B
b
Sperm
1
1
(2  2 )
1
2
F2 genotypes
B
b
b
1
4
B
1
4
b
B
1
4
Eggs
1
2
B
B
b
b
1
4
© 2012 Pearson Education, Inc.
8
9.8 CONNECTION: Genetic traits in humans can
be tracked through family pedigrees
Figure 9.8A
Dominant Traits
Recessive Traits
 In a simple dominant-recessive inheritance of
dominant allele A and recessive allele a,
Freckles
No freckles
Widow’s peak
Straight hairline
Free earlobe
Attached earlobe
– a recessive phenotype always results from a
homozygous recessive genotype (aa) but
– a dominant phenotype can result from either
– the homozygous dominant genotype (AA) or
– a heterozygous genotype (Aa).
 Wild-type traits, those prevailing in nature, are
not necessarily specified by dominant alleles.
© 2012 Pearson Education, Inc.
Figure 9.8A_1
Figure 9.8A_2
Freckles
Figure 9.8A_3
No freckles
Figure 9.8A_4
Widow’s peak
Straight hairline
9
Figure 9.8A_5
Figure 9.8A_6
Free earlobe
9.8 CONNECTION: Genetic traits in humans can
be tracked through family pedigrees
Attached earlobe
Figure 9.8B
 The inheritance of human traits follows Mendel’s
laws.
First generation
(grandparents)
 A pedigree
Second generation
(parents, aunts,
FF
and uncles)
or
Ff
Third generation
(two sisters)
– shows the inheritance of a trait in a family through
multiple generations,
– demonstrates dominant or recessive inheritance, and
Female
– can also be used to deduce genotypes of family
members.
Ff
ff
Ff
ff
ff
Ff
Ff
Ff
ff
ff
FF
or
Ff
Male
Attached
Free
© 2012 Pearson Education, Inc.
9.9 CONNECTION: Many inherited disorders in
humans are controlled by a single gene
Figure 9.9A
Normal
Dd
Parents
Normal
Dd

 Inherited human disorders show either
1. recessive inheritance in which
D
Sperm
d
– two recessive alleles are needed to show disease,
– heterozygous parents are carriers of the disease-causing
allele, and
D
– the probability of inheritance increases with inbreeding,
mating between close relatives.
2. dominant inheritance in which
– one dominant allele is needed to show disease and
– dominant lethal alleles are usually eliminated from the
population.
Offspring
DD
Normal
Dd
Normal
(carrier)
Dd
Normal
(carrier)
dd
Deaf
Eggs
d
© 2012 Pearson Education, Inc.
10
9.9 CONNECTION: Many inherited disorders in
humans are controlled by a single gene
Table 9.9
 The most common fatal genetic disease in the
United States is cystic fibrosis (CF), resulting in
excessive thick mucus secretions. The CF allele is
– recessive and
– carried by about 1 in 31 Americans.
 Dominant human disorders include
– achondroplasia, resulting in dwarfism, and
– Huntington’s disease, a degenerative disorder of the
nervous system.
© 2012 Pearson Education, Inc.
Figure 9.9B
9.10 CONNECTION: New technologies can
provide insight into one’s genetic legacy
 New technologies offer ways to obtain genetic
information
– before conception,
– during pregnancy, and
– after birth.
 Genetic testing can identify potential parents who
are heterozygous carriers for certain diseases.
© 2012 Pearson Education, Inc.
9.10 CONNECTION: New technologies can
provide insight into one’s genetic legacy
 Several technologies can be used for detecting
genetic conditions in a fetus.
Figure 9.10A
Amniocentesis
Chorionic Villus Sampling (CVS)
Amniotic fluid
extracted
Ultrasound
transducer
Fetus
Fetus
Placenta
Chorionic
villi
Placenta
Uterus
Cervix
– Amniocentesis extracts samples of amniotic fluid
containing fetal cells and permits
– biochemical tests on cultured fetal cells to detect other
conditions, such as Tay-Sachs disease.
– Chorionic villus sampling removes a sample of
chorionic villus tissue from the placenta and permits
similar karyotyping and biochemical tests.
Video: Ultrasound of Human Fetus
Cervix
Uterus
Centrifugation
Amniotic fluid
Fetal cells
– karyotyping and
Tissue extracted
from the
chorionic villi
Ultrasound
transducer
Several
hours
Cultured
cells
Several
weeks
Several
weeks
Biochemical
and genetics
tests
Fetal cells
Several
hours
Several
hours
Karyotyping
© 2012 Pearson Education, Inc.
11
9.10 CONNECTION: New technologies can
provide insight into one’s genetic legacy
Figure 9.10B
 Blood tests on the mother at 14–20 weeks of
pregnancy can help identify fetuses at risk for
certain birth defects.
 Fetal imaging enables a physician to examine a
fetus directly for anatomical deformities. The most
common procedure is ultrasound imaging, using
sound waves to produce a picture of the fetus.
 Newborn screening can detect diseases that can
be prevented by special care and precautions.
© 2012 Pearson Education, Inc.
Figure 9.10B_1
Figure 9.10B_2
9.10 CONNECTION: New technologies can
provide insight into one’s genetic legacy
 New technologies raise ethical considerations that
include
VARIATIONS ON
MENDEL’S LAWS
– the confidentiality and potential use of results of
genetic testing,
– time and financial costs, and
– determining what, if anything, should be done as a
result of the testing.
© 2012 Pearson Education, Inc.
© 2012 Pearson Education, Inc.
12
Figure 9.11A
9.11 Incomplete dominance results in
intermediate phenotypes
P generation

Red
RR
 Mendel’s pea crosses always looked like one of the
parental varieties, called complete dominance.
White
rr
Gametes R
r
F1 generation
 For some characters, the appearance of F1 hybrids
falls between the phenotypes of the two parental
varieties. This is called incomplete dominance, in
which
Pink hybrid
Rr
Gametes
1
R
2
Sperm
1
1
2 R
2 r
F2 generation
– neither allele is dominant over the other and
– expression of both alleles occurs.
1
r
2
1 R
2
RR
rR
1 r
2
Rr
rr
Eggs
© 2012 Pearson Education, Inc.
Figure 9.11A_1
Figure 9.11A_2
P generation
F1 generation
Pink hybrid
Rr

White
rr
Red
RR
Gametes R
1
Gametes 2 R
r
Figure 9.11A_3
1
2 r
9.11 Incomplete dominance results in
intermediate phenotypes
F2 generation
Sperm
1
2
R
1
2
r
1
R
2
RR
rR
1
r
2
Rr
rr
 Incomplete dominance does not support the
blending hypothesis because the original parental
phenotypes reappear in the F2 generation.
 One example of incomplete dominance in humans
is hypercholesterolemia, in which
Eggs
– dangerously high levels of cholesterol occur in the blood
and
– heterozygotes have intermediately high cholesterol
levels.
© 2012 Pearson Education, Inc.
13
Figure 9.11B
9.12 Many genes have more than two alleles in
the population
HH
Homozygous
for ability to make
LDL receptors
Genotypes
Hh
Heterozygous
hh
Homozygous
for inability to make
LDL receptors
 Although an individual can at most carry two
different alleles for a particular gene, more than two
alleles often exist in the wider population.
 Human ABO blood group phenotypes involve three
alleles for a single gene.
Phenotypes
LDL
LDL
receptor
 The four human blood groups, A, B, AB, and O,
result from combinations of these three alleles.
Cell
Normal
Mild disease
Severe disease
 The A and B alleles are both expressed in
heterozygous individuals, a condition known as
codominance.
© 2012 Pearson Education, Inc.
9.12 Many genes have more than two alleles in
the population
 In codominance,
Figure 9.12
Blood
Group
(Phenotype)
– neither allele is dominant over the other and
– expression of both alleles is observed as a distinct
phenotype in the heterozygous individual.
– AB blood type is an example of codominance.
A
Genotypes
Carbohydrates Present
on Red Blood Cells
IAIA
or
IAi
Carbohydrate A
IBIB
Carbohydrate B
AB
IAIB
O
ii
Reaction When Blood from Groups Below Is Mixed
with Antibodies from Groups at Left
O
A
B
AB
Anti-B
or
IBi
B
Antibodies
Present
in Blood
Anti-A
Carbohydrate A
and
Carbohydrate B
None
Anti-A
Neither
Anti-B
No reaction
Clumping reaction
© 2012 Pearson Education, Inc.
Figure 9.12_1
Figure 9.12_2
Blood
Group
(Phenotype)
Genotypes
Carbohydrates Present
on Red Blood Cells
IAIA
or
IAi
Carbohydrate A
IBIB
or
IBi
Carbohydrate B
B
AB
IAIB
A
Carbohydrate A
and
Carbohydrate B
Blood
Antibodies
Group
Present
(Phenotype) in Blood
A
Anti-B
B
Anti-A
AB
None
Reaction When Blood from Groups Below Is
Mixed with Antibodies from Groups at Left
O
A
B
AB
Anti-A
O
O
ii
Neither
Anti-B
14
9.13 A single gene may affect many phenotypic
characters
Figure 9.13A
 Pleiotropy occurs when one gene influences many
characteristics.
 Sickle-cell disease is a human example of pleiotropy.
This disease
– affects the type of hemoglobin produced and the shape of
red blood cells and
– causes anemia and organ damage.
– Sickle-cell and nonsickle alleles are codominant.
– Carriers of sickle-cell disease are resistant to malaria.
© 2012 Pearson Education, Inc.
Figure 9.13B
An individual homozygous for the sickle-cell allele
Produces sickle-cell (abnormal) hemoglobin
The abnormal hemoglobin crystallizes,
causing red blood cells to become sickle-shaped
Sickled cell
9.14 A single character may be influenced by
many genes
 Many characteristics result from polygenic
inheritance, in which a single phenotypic
character results from the additive effects of two or
more genes.
 Human skin color is an example of polygenic
inheritance.
The multiple effects of sickled cells
Damage to organs
Other effects
Kidney failure
Heart failure
Spleen damage
Brain damage (impaired
mental function,
paralysis)
Pain and fever
Joint problems
Physical weakness
Anemia
Pneumonia and other
infections
© 2012 Pearson Education, Inc.
Figure 9.14
Figure 9.14_1
P generation

aabbcc
AABBCC
(very light) (very dark)
P generation
F1 generation


aabbcc
AABBCC
(very light) (very dark)
AaBbCc AaBbCc
Sperm
1
8
F2 generation
1
8
1
8
1
8
1
8
1
8
1
8
1
8
1
8
1
8
1
8
1
8
1
8
1
8
1
8
1
8
1
64
F1 generation
Fraction of population
Eggs
6
64
15
64
20
64
15
64
6
64
1
64

AaBbCc
AaBbCc
Skin color
15
Figure 9.14_2
Figure 9.14_3
Sperm
1
8
1
8
1
8
1
8
1
8
1
8
1
8
1
8
1
8
Eggs
20
64
1
8
Fraction of population
F2 generation
1
8
1
8
1
8
1
8
1
8
15
64
6
64
1
8
1
64
1
64
6
64
15
64
20
64
15
64
6
64
Skin color
1
64
9.15 The environment affects many characters
Figure 9.15A
 Many characters result from a combination of
heredity and the environment. For example,
– skin color is affected by exposure to sunlight,
– susceptibility to diseases, such as cancer, has
hereditary and environmental components, and
– identical twins show some differences.
 Only genetic influences are inherited.
© 2012 Pearson Education, Inc.
Figure 9.15B
THE CHROMOSOMAL BASIS
OF INHERITANCE
© 2012 Pearson Education, Inc.
16
9.16 Chromosome behavior accounts for
Mendel’s laws
9.16 Chromosome behavior accounts for
Mendel’s laws
 The chromosome theory of inheritance states that
 Mendel’s laws correlate with chromosome
separation in meiosis.
– genes occupy specific loci (positions) on chromosomes
and
– chromosomes undergo segregation and independent
assortment during meiosis.
© 2012 Pearson Education, Inc.
– The law of segregation depends on separation of
homologous chromosomes in anaphase I.
– The law of independent assortment depends on
alternative orientations of chromosomes in metaphase I.
© 2012 Pearson Education, Inc.
Figure 9.16_s1
Figure 9.16_s2
F1 generation
R
r
F1 generation
All yellow round seeds
(RrYy)
y
r
R
Y
y
R
r
All yellow round seeds
(RrYy)
y
Y
Y
Metaphase I
of meiosis
r
R
Y
y
Y
R
r
Y
y
r
R
Y
y
r
R
y
Metaphase I
of meiosis
r
R
Y
y
Anaphase I
Metaphase II
Figure 9.16_s3
R
r
r
R
Y
y
Y
y
Figure 9.16_4
F1 generation
R
r
All yellow round seeds
(RrYy)
y
Y
Sperm
r
R
Y
R
r
Y
y
y
Metaphase I
of meiosis
r
R
Y
y
1
1
1
1
4 RY 4 rY 4 Ry 4 ry
1
4 RY RRYY RrYY RRYy RrYy
r
R
Y
y
1
4 rY
Anaphase I
Eggs
Metaphase II
R
r
r
R
Y
y
Y
y
1 ry
4
Gametes
Y
Y
R
R
1
4
RY
y
Y
y
r
r
1
4
r
ry
F2 generation 9
Fertilization
:3
Y
:3
r
1
4
rY
y
y
R
1 Ry
4
RrYY rrYY RrYy rrYy
RRYy RrYy RRyy Rryy
RrYy rrYy
Rryy rryy
9
16
Yellow
round
3
16
Green
round
3
16
Yellow
wrinkled
1
16
Green
wrinkled
R
1
4
Ry
:1
17
9.17 SCIENTIFIC DISCOVERY: Genes on the same
chromosome tend to be inherited together
Figure 9.17
The Experiment
Purple flower

PpLl
 Bateson and Punnett studied plants that did not show
a 9:3:3:1 ratio in the F2 generation. What they found
was an example of linked genes, which
Phenotypes
PpLl
Long pollen
Observed
offspring
284
21
21
55
Purple long
Purple round
Red long
Red round
Prediction
(9:3:3:1)
215
71
71
24
The Explanation: Linked Genes
PL
Parental
diploid cell
PpLl
– are located close together on the same chromosome and
pl
Meiosis
– tend to be inherited together.
Most
gametes
pl
PL
Fertilization
Sperm
PL
Most
offspring
pl
PL
PL
PL
pl
pl
pl
PL
pl
PL
Eggs
pl
3 purple long : 1 red round
Not accounted for: purple round and red long
© 2012 Pearson Education, Inc.
Figure 9.17_1
Figure 9.17_2
The Explanation: Linked Genes
PL
Parental
diploid cell
PpLl
pl
The Experiment
Meiosis
Purple flower
PpLl

PpLl
Most
gametes
Long pollen
pl
PL
Fertilization
Phenotypes
Purple long
Purple round
Red long
Red round
Observed
offspring
284
21
21
55
Prediction
(9:3:3:1)
215
71
71
24
Sperm
pl
PL
PL
PL
Most
PL
offspring Eggs
pl
pl
PL
PL
pl
pl
pl
3 purple long : 1 red round
Not accounted for: purple round and red long
9.18 SCIENTIFIC DISCOVERY: Crossing over
produces new combinations of alleles
 Crossing over between homologous
chromosomes produces new combinations of
alleles in gametes.
 Linked alleles can be separated by crossing over,
forming recombinant gametes.
Figure 9.18A
p L
Parental gametes
pl
p L
 The percentage of recombinants is the
recombination frequency.
p l
PL
Tetrad
Crossing over
(pair of
homologous
chromosomes)
P l
Recombinant gametes
© 2012 Pearson Education, Inc.
18
Figure 9.18B
Figure 9.18C
The Explanation
The Experiment
Gray body,
long wings
(wild type)
GgLl
Female
Black body,
vestigial wings
GgLl
ggll
Female
Male
GL
gl
gl
gl
ggll
Male
Crossing over
GL
g l
gl
gL
Gl
Eggs
Sperm
Offspring
Gray long
Black vestigial Gray vestigial
Black long
Offspring
GL
g l
G l
g L
g l
g l
g l
g l
Parental
965
944
206
Parental
phenotypes
185
Recombinant
phenotypes
Recombination frequency 
Figure 9.18C_1
Recombinant
391 recombinants
 0.17 or 17%
2,300 total offspring
Figure 9.18C_2
The Experiment
Gray body,
long wings
(wild type)
Black body,
vestigial wings
GgLl
ggll
Female
Male
The Explanation
GgLl
Female
GL
gl
gl
gl
ggll
Male
Crossing over
g l
GL
gl
gL
Gl
Offspring: Gray long Black vestigial Gray vestigial Black long
Eggs
Sperm
Offspring
965
944
Parental
phenotypes
206
185
Recombinant
phenotypes
GL
g l
G l
gL
g l
g l
g l
g l
Parental
Recombinant
391 recombinants
Recombination frequency 
 0.17 or 17%
2,300 total offspring
9.19 Geneticists use crossover data to map genes
 When examining recombinant frequency, Morgan
and his students found that the greater the
distance between two genes on a chromosome,
the more points there are between them where
crossing over can occur.
 Recombination frequencies can thus be used to
map the relative position of genes on
chromosomes.
Figure 9.19A
Section of chromosome carrying linked genes
g
c
l
17%
9%
9.5%
Recombination
frequencies
© 2012 Pearson Education, Inc.
19
Figure 9.19B
Mutant phenotypes
Short
aristae
Black
body
(g)
Cinnabar Vestigial
eyes
wings
(c)
(l)
Red
Long aristae Gray
Normal
eyes
(appendages body
wings
(C)
on head)
(G)
(L)
Wild-type phenotypes
Brown
eyes
SEX CHROMOSOMES AND
SEX-LINKED GENES
Red
eyes
© 2012 Pearson Education, Inc.
9.20 Chromosomes determine sex in many
species
Figure 9.20A
 Many animals have a pair of sex chromosomes,
X
– designated X and Y,
– that determine an individual’s sex.
 In mammals,
– males have XY sex chromosomes,
– females have XX sex chromosomes,
Y
– the Y chromosome has genes for the development of
testes, and
– an absence of the Y allows ovaries to develop.
© 2012 Pearson Education, Inc.
Figure 9.20B
Figure 9.20B_1
Male
44

XY
Parents
(diploid)
Gametes
(haploid)
Offspring
(diploid)
22

X
22

Y
Sperm
44

XX
Female
Female
44

XX
22

X
Egg
44

XY
Male
20
9.20 Chromosomes determine sex in many
species
Figure 9.20C
 Grasshoppers, roaches, and some other insects
have an X-O system, in which
– O stands for the absence of a sex chromosome,
– females are XX, and
– males are XO.
Male
Female
22

X
22

XX
 In certain fishes, butterflies, and birds,
– the sex chromosomes are Z and W,
– males are ZZ, and
– females are ZW.
© 2012 Pearson Education, Inc.
Figure 9.20C_1
Figure 9.20D_1
Figure 9.20D
Male
Female
76

ZZ
76

ZW
9.20 Chromosomes determine sex in many
species
 Some organisms lack sex chromosomes altogether.
 In bees, sex is determined by chromosome number.
– Females are diploid.
– Males are haploid.
© 2012 Pearson Education, Inc.
21
Figure 9.20E
Figure 9.20E_1
Male
Female
16
32
9.20 Chromosomes determine sex in many
species
9.21 Sex-linked genes exhibit a unique pattern of
inheritance
 In some animals, environmental temperature
determines the sex.
 Sex-linked genes are located on either of the sex
chromosomes.
– For some species of reptiles, the temperature at which
the eggs are incubated during a specific period of
development determines whether the embryo will develop
into a male or female.
– Global climate change may therefore impact the sex ratio
of such species.
 The X chromosome carries many genes unrelated
to sex.
 The inheritance of white eye color in the fruit fly
illustrates an X-linked recessive trait.
© 2012 Pearson Education, Inc.
© 2012 Pearson Education, Inc.
Figure 9.21A
Figure 9.21A_1
22
Figure 9.21A_2
Figure 9.21B
Female
Male
XRXR
XrY
Sperm
Eggs XR
Xr
Y
XRXr
XRY
R  red-eye allele
r  white-eye allele
Figure 9.21C
Female
Male
XRXr
XRY
Figure 9.21D
Female
Male
XRXr
XrY
Sperm
Y
xR
XR
XRXR
Sperm
XRY
Y
XR
XRXr
XRY
Xr
XrXr
XrY
Eggs
Eggs
Xr
Xr
XrXR
XrY
R  red-eye allele
r  white-eye allele
R  red-eye allele
r  white-eye allele
9.22 CONNECTION: Human sex-linked
disorders affect mostly males
9.22 CONNECTION: Human sex-linked
disorders affect mostly males
 Most sex-linked human disorders are
 Recessive and sex-linked human disorders
include
– due to recessive alleles and
– seen mostly in males.
 A male receiving a single X-linked recessive allele
from his mother will have the disorder.
 A female must receive the allele from both parents
to be affected.
© 2012 Pearson Education, Inc.
– hemophilia, characterized by excessive bleeding
because hemophiliacs lack one or more of the proteins
required for blood clotting,
– red-green color blindness, a malfunction of lightsensitive cells in the eyes, and
– Duchenne muscular dystrophy, a condition
characterized by a progressive weakening of the
muscles and loss of coordination.
© 2012 Pearson Education, Inc.
23
Figure 9.22
Figure 9.22_1
Queen
Victoria
Albert
Alice
Louis
Alexandra
Czar
Nicholas II
of Russia
Alexis
Female Male
Hemophilia
Carrier
Normal
9.23 EVOLUTION CONNECTION: The Y
chromosome provides clues about human
male evolution
Figure 9.23
 The Y chromosome provides clues about human
male evolution because
– Y chromosomes are passed intact from father to son
and
– mutations in Y chromosomes can reveal data about
recent shared ancestry.
© 2012 Pearson Education, Inc.
You should now be able to
You should now be able to
1. Describe pangenesis theory and the blending
hypothesis. Explain why both ideas are now
rejected.
4. Explain how Mendel’s law of segregation
describes the inheritance of a single
characteristic.
2. Define and distinguish between true-breeding
organisms, hybrids, the P generation, the F1
generation, and the F2 generation.
5. Describe the genetic relationships between
homologous chromosomes.
3. Define and distinguish between the following pairs of
terms: homozygous and heterozygous; dominant
allele and recessive allele; genotype and phenotype.
Also, define a monohybrid cross and a Punnett
square.
© 2012 Pearson Education, Inc.
6. Explain how Mendel’s law of independent
assortment applies to a dihybrid cross.
7. Explain how and when the rule of multiplication
and the rule of addition can be used to determine
the probability of an event.
© 2012 Pearson Education, Inc.
24
You should now be able to
You should now be able to
8. Explain how family pedigrees can help
determine the inheritance of many human traits.
11. Describe the inheritance patterns of incomplete
dominance, multiple alleles, codominance,
pleiotropy, and polygenic inheritance.
9. Explain how recessive and dominant disorders
are inherited. Provide examples of each.
12. Explain how the sickle-cell allele can be adaptive.
10. Compare the health risks, advantages, and
disadvantages of the following forms of fetal
testing: amniocentesis, chorionic villus sampling,
and ultrasound imaging.
13. Explain why human skin coloration is not
sufficiently explained by polygenic inheritance.
© 2012 Pearson Education, Inc.
© 2012 Pearson Education, Inc.
14. Define the chromosome theory of inheritance.
Explain the chromosomal basis of the laws of
segregation and independent assortment.
Figure 9.UN01
You should now be able to
15. Explain how linked genes are inherited differently
from nonlinked genes.
16. Describe T. H. Morgan’s studies of crossing over in
fruit flies. Explain how Sturtevant created linkage
maps.
Homologous Alleles, residing
chromosomes at the same locus
Fertilization
Meiosis
Gamete
from the
other
Paired alleles,
parent
different forms
of a gene
Haploid gametes
(allele pairs separated)
17. Explain how sex is genetically determined in humans
and the significance of the SRY gene.
Diploid zygote
(containing
paired alleles)
18. Describe patterns of sex-linked inheritance and
examples of sex-linked disorders.
19. Explain how the Y chromosome can be used to trace
human ancestry.
© 2012 Pearson Education, Inc.
Figure 9.UN02
Figure 9.UN03
Incomplete
dominance
Red
RR
White
rr
Pink
Rr
Single
gene
Pleiotropy
Multiple characters
25
Figure 9.UN04
Figure 9.UN05
Genes
located
on
alternative
versions called
chromosomes
at specific
locations called
Multiple
genes
Polygenic
inheritance
Single characters
(such as skin color)
(b)
(a)
if both are the same,
the genotype is called
if different, the
genotype is called
(c)
heterozygous
the expressed
allele is called
(d)
the unexpressed
allele is called
(e)
inheritance when the phenotype
is in between is called
(f)
Figure 9.UN06
26