Chapter 9

Patterns of Inheritance

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Biology: Concepts and Connections, Fifth Edition
– Campbell, Reece, Taylor, and Simon

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 Purebreds and Mutts–A Difference of Heredity
• Purebred dogs
– Are very similar on a genetic level due to
selective breeding

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 • Mutts, or mixed breed dogs on the other hand
– Show considerably more genetic variation

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 MENDEL’S LAWS
9.1 The science of genetics has ancient roots
• The historical roots of genetics, the science of
heredity
– Date back to ancient attempts at selective
breeding

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 9.2 Experimental genetics began in an abbey
garden
• Modern genetics
– Began with Gregor Mendel’s quantitative
experiments with pea plants

Petal

Stamen
Carpel

Figure 9.2 A Figure 9.2 B

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 • Mendel crossed pea plants that differed in
certain characteristics
– And traced traits from generation to
generation
1 Removed stamens White
from purple
flower

Stamens
Carpel 2 Transferred
pollen from stamens
Parents Purple of white flower to
(P)
carpel of purple flower

3 Pollinated carpel
matured into pod

4 Planted seeds
from pod

Offspring
(F1)

Figure 9.2 C
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 • Mendel hypothesized that there are alternative
forms of genes
– The units that determine heritable traits

Flower color Purple White

Flower position Axial Terminal

Seed color Yellow Green

Seed shape Round Wrinkled

Pod shape Inflated Constricted

Pod color Green Yellow

Stem length Tall Dwarf

Figure 9.2 D
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 9.3 Mendel’s law of segregation describes the
inheritance of a single characteristic
• From his experimental data
– Mendel deduced that an organism has two
genes (alleles) for each inherited characteristic
P generation
(true-breeding
parents) 
Purple flowers White flowers

F1 generation All plants have

purple flowers

Fertilization
among F1 plants
(F1  F1)

F2 generation

3 1
4 of plants 4 of plants
have purple flowers have white flowers

Figure 9.3 A
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 • For each characteristic
– An organism inherits two alleles, one from
each parent

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 • If the two alleles of an inherited pair differ
– Then one determines the organism’s
appearance and is called the dominant
allele
• The other allele
– Has no noticeable effect on the organism’s
appearance and is called the recessive
allele

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 • Mendel’s law of segregation
– Predicts that allele pairs separate from
each other during the production of
gametes P plants Genetic makeup (alleles)
PP pp

Gametes
All P All p

F1 plants
(hybrids) All Pp

1P 1p
Gametes 2 2

Sperm
P p
F2 plants Phenotypic ratio
3 purple : 1 white P PP Pp

Eggs
Genotypic ratio
1 PP : 2 Pp: 1 pp p Pp pp

Figure 9.3 B
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 9.4 Homologous chromosomes bear the two
alleles for each characteristic
• Alternative forms of a gene
– Reside at the same locus on homologous
chromosomes Dominant
Gene loci allele

P a B

P a b
Recessive
allele
Genotype: PP aa Bb
Homozygous Homozygous Heterozygous
for the for the
dominant allele recessive allele
Figure 9.4
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 9.5 The law of independent assortment is
revealed by tracking two characteristics at once
• By looking at two characteristics at once
– Mendel tried to determine how two
characteristics were inherited

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 • Mendel’s law of independent assortment
– States that alleles of a pair segregate independently
of other allele pairs during gamete formation
Hypothesis: Dependent assortment Hypothesis: Independent assortment
P generation RRYY rryy RRYY rryy

Gametes RY ry Gametes RY  ry

RrYy RrYy
F1 generation

Sperm Sperm
1 1 ry 1 1 ry
1 1 RY RY
4 4 4 4
2 RY 2 ry
1
RY
1 4
F2 generation RY RRYY RrYY RRYy RrYy
2
Eggs 1
1 ry
ry 4
RrYY rrYY RrYy rrYy
2 Eggs
9 Yellow
1 round
Ry 16
4
RRYy RrYy RRyy Rryy Green
3
16 round
1
ry Yellow
Actual results 4 3
contradict hypothesis RrYy rrYy Rryy rryy wrinkled
16
Actual results 1 Green
support hypothesis 16 wrinkled
Figure 9.5 A
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 • An example of independent assortment

Blind Blind

Phenotypes Black coat, normal vision Black coat, blind (PRA) Chocolate coat, normal vision Chocolate coat, blind (PRA)
Genotypes B_N_ B_nn bbN_ bbnn

Mating of heterozygotes BbNn  BbNn

(black, normal vision)
Phenotypic ratio 9 black coat, 3 black coat, 3 chocolate coat, 1 chocolate coat,
normal vision blind (PRA) normal vision blind (PRA)
of offspring

Figure 9.5 B

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 9.6 Geneticists use the testcross to determine unknown genotypes
• The offspring of a testcross, a mating between an individual of
unknown genotype and a homozygous recessive individual

– Can reveal the unknown’s genotype

Testcross: 

Genotypes B_ bb

Two possibilities for the black dog:

BB or Bb

Gametes B B b

b Bb b Bb bb

Offspring All black 1 black : 1 chocolate

Figure 9.6
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 9.7 Mendel’s laws reflect the rules of probability
• Inheritance follows the rules of probability

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 • The rule of multiplication
– Calculates the probability of two independent events
• The rule of addition
– Calculates the probability of an event that can occur
in alternate ways
F1 genotypes
Bb male

Formation of sperm

Bb female

Formation of eggs

1 1 b
B
2 2

1 B B B b
B
2
1 1
4 4
F2 genotypes

1 b b B b b
2
1 1
4 4
Figure 9.7
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 CONNECTION
9.8 Genetic traits in humans can be tracked
through family pedigrees
• The inheritance of many human traits
– Follows Mendel’s laws Dominant Traits Recessive Traits

Freckles No freckles

Widow’s peak Straight hairline

Free earlobe Attached earlobe

Figure 9.8 A
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 • Family pedigrees
– Can be used to determine individual genotypes

Dd Dd D? D?
Joshua Abigail John Hepzibah
Lambert Linnell Eddy Daggett

D? dd Dd
Abigail Jonathan Elizabeth
Lambert Lambert Eddy

Dd Dd dd Dd Dd Dd dd

Female Male
Deaf
Hearing
Figure 9.8 B
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 CONNECTION
9.9 Many inherited disorders in humans are
controlled by a single gene
• Some autosomal disorders in humans

Table 9.9
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 Recessive Disorders
• Most human genetic disorders are recessive
Parents Normal Normal

Dd Dd
Sperm
D d

Dd
D DD Normal
Normal (carrier)

Offspring Eggs

Dd dd
d Normal Deaf
(carrier)

Figure 9.9 A
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 Dominant Disorders
• Some human genetic disorders are dominant

Figure 9.9 B

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 CONNECTION
9.10 New technologies can provide insight into one’s
genetic legacy
• New technologies
– Can provide insight for reproductive decisions

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 Identifying Carriers
• For an increasing number of genetic disorders
– Tests are available that can distinguish
carriers of genetic disorders

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 Fetal Testing
• Amniocentesis and chorionic villus sampling (CVS)
– Allow doctors to remove fetal cells that can be tested
for genetic abnormalities
Amniocentesis Chorionic villus sampling (CVS)

Ultrasound Needle inserted

monitor through abdomen to Ultrasound Suction tube inserted
extract amniotic fluid monitor through cervix to extract
tissue from chorionic villi

Fetus
Fetus
Placenta
Placenta
Chorionic
Uterus villi
Cervix Cervix
Uterus
Amniotic
fluid Centrifugation
Fetal Fetal
cells cells

Biochemical
tests
Several Several
weeks hours

Karyotyping
Figure 9.10 A
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 Fetal Imaging
• Ultrasound imaging
– Uses sound waves to produce a picture of the fetus

Figure 9.10 B
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 Newborn Screening
• Some genetic disorders can be detected at
birth
– By simple tests that are now routinely
performed in most hospitals in the United
States

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 Ethical Considerations
• New technologies such as fetal imaging and
testing
– Raise new ethical questions

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 VARIATIONS ON MENDEL’S LAWS
9.11 The relationship of genotype to phenotype is
rarely simple
• Mendel’s principles are valid for all sexually
reproducing species
– But genotype often does not dictate
phenotype in the simple way his laws
describe

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 9.12 Incomplete dominance results in intermediate phenotypes
• When an offspring’s phenotype is in between the phenotypes of its parents
– It exhibits incomplete dominance

P generation

Red  White
RR rr

Gametes R r

F1 generation
Pink
Rr
Genotypes:

1 HH Hh hh
Gametes 1 R r
2 2 Homozygous Heterozygous Homozygous
for ability to make for inability to make
LDL receptors LDL receptors
Sperm Phenotypes:
1 1
R r
2 2 LDL
1 Red Pink LDL
R rR receptor
2 RR
F2 generation Eggs
1 Pink White Cell
r
2 Rr rr
Normal Mild disease Severe disease

Figure 9.12 A Figure 9.12 B

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 9.13 Many genes have more than two alleles in
the population
• In a population
– Multiple alleles often exist for a
characteristic

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 • The ABO blood type in humans
– Involves three alleles of a single gene
• The alleles for A and B blood types are codominant
– And both are expressed in the phenotype
Blood Antibodies Reaction When Blood from Groups Below Is Mixed with
Group Present in Antibodies from Groups at Left
(Phenotype) Genotypes Blood O A B AB

O ii Anti-A
Anti-B

IAIA
A or Anti-B
IAi

IBIB
B or Anti-A
IBi

AB IAIB —

Figure 9.13

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 9.14 A single gene may affect many phenotypic
characteristics
• In pleiotropy
– A single gene may affect phenotype in many ways
Individual homozygous
for sickle-cell allele

Sickle-cell (abnormal) hemoglobin

Abnormal hemoglobin crystallizes,

causing red blood cells to become sickle-shaped

Sickle cells

5,555
Breakdown of Clumping of cells Accumulation of
red blood cells and clogging of sickled cells in spleen
small blood vessels

Physical Heart Pain and Brain Damage to Spleen

Anemia
weakness failure fever damage other organs damage

Impaired Pneumonia
Paralysis Rheumatism Kidney
mental and other
failure
function infections

Figure 9.14
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 9.15 A single characteristic may be influenced by many genes
• Polygenic inheritance
– Creates a continuum of phenotypes

P generation 
aabbcc AABBCC
(very light) (very dark)


F1 generation
AaBbCc AaBbCc

Sperm 1 6 15 20 15 6 1
64 64 64 64 64 64 64
1 1 1 1 1 1 1 1
8 8 8 8 8 8 8 8
20
F2 generation 1 64
8
1
8 15
Fraction of population

1 64
8
1
Eggs 8
1
8
6
1
64
8
1
8 1
1 64
8 Skin color
Figure 9.15
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 9.16 The environmental affects many
characteristics
• Many traits are affected, in varying degrees
– By both genetic and environmental factors

Figure 9.16

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 CONNECTION
9.17 Genetic testing can detect disease-causing
alleles
• Predictive genetic testing
– May inform people of their risk for
developing genetic diseases

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 THE CHROMOSOMAL BASIS OF INHERITANCE
9.18 Chromosome behavior accounts for
Mendel’s laws
• Genes are located on chromosomes
– Whose behavior during meiosis and
fertilization accounts for inheritance
patterns

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 • The chromosomal basis of Mendel’s laws
F1 generation All round yellow seeds
(RrYy)
R
r y

Y
R r r R

Metaphase I
Y y of meiosis Y y
(alternative arrangements)
R r r R

Anaphase I
Y y of meiosis Y y
R r r R
Metaphase II
of meiosis
Y y Y y

Y y
Y Y Y y y
Gametes y
R R r r r r R R
1 1 1 1
RY ry rY Ry
4 4 4 4
Fertilization among the F1 plants

F2 generation 9 :3 :3 :1
(See Figure 9.5A)

Figure 9.18
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 9.19 Genes on the same chromosome tend to be
inherited together Experiment
Purple flower
• Certain genes are linked PpLI  PpLI
Long pollen

– They tend to be inherited

Observed Prediction
Phenotypes offspring (9:3:3:1)
Purple long 284 215

together because they Purple round

Red long
Red round
21
21
55
71
71
24

reside close together on Explanation: linked genes

the same chromosome Parental

diploid cell
PL

PpLI PI

Meiosis

Most PL PI
gametes

Fertilization

Sperm
PL PI
PL PL
PL
Most
PL PI
offspring Eggs
PI PI
PI
PL PI
3 purple long : 1 red round
Not accounted for: purple round and red long

Figure 9.19
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 9.20 Crossing over produces new combinations
of alleles
• Crossing over can separate linked alleles
– Producing gametes with recombinant
chromosomes

A B a b
A B

a b A b a B

Tetrad Crossing over

Figure 9.20 A Gametes

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 • Thomas Hunt Morgan
– Performed some of the early studies of
crossing over using the fruit fly Drosophila
melanogaster

Figure 9.20 B
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 • Morgan’s experiments
– Demonstrated the role Experiment
Gray body,
long wings
Black body,
vestigial
wings

of crossing over in (wild type)

GgLI

ggll

inheritance Female Male

Offspring
Gray long Black vestigial Gray vestigial Black long

965 944 206 185

Parental Recombinant
phenotypes phenotypes
391 recombinants
Recombination frequency = = 0.17 or 17%
2,300 total offspring

Explanation
GL g l
GgLI ggll
(female) (male)
g l gl

GL g l Gl gL gl

Eggs Sperm
GL gl Gl gL
gl gl gl gl

Offspring

Figure 9.20 C
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 9.21 Geneticists use crossover data to map
genes
• Morgan and his students
– Used crossover data to map genes in
Drosophila

Figure 9.21 A
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 • Recombination frequencies
– Can be used to map the relative positions
of genes on chromosomes.

Mutant phenotypes

Short Black Cinnabar Vestigial Brown

aristae body eyes wings eyes
(g) (c) (l)

Chromosome
g c l

17%

9% 9.5%

Recombination Long aristae Gray Red Normal Red

frequencies (appendages body eyes wings eyes
on head) (G) (C) (L)

Wild-type phenotypes
Figure 9.21 B Figure 9.21 C

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 SEX CHROMOSOMES AND SEX-LINKED GENES
9.22 Chromosomes determine sex in many
species
• In mammals, a male has one X chromosome
and one Y chromosome
– And a female has two X chromosomes

(male) (female)
44 44
+ Parents’ +
XY diploid XX
cells

22 22 22
+ + +
X Y X
Sperm Egg

44 Offspring 44
+ +
XX (diploid) XY

Figure 9.22 A
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 • The Y chromosome
– Has genes for the development of testes
• The absence of a Y chromosome
– Allows ovaries to develop

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 • Other systems of sex determination exist in
other animals and plants

22 22
+ +
XX X

Figure 9.22 B

76 76
+ +
ZW ZZ

Figure 9.22 C

32 16

Figure 9.22 D
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 9.23 Sex-linked genes exhibit a unique pattern of
inheritance
• All genes on the sex chromosomes
– Are said to be sex-linked
• In many organisms
– The X chromosome carries many genes
unrelated to sex

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 • In Drosophila
– White eye color is a sex-linked trait

Figure 9.23 A
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 • The inheritance pattern of sex-linked genes
– Is reflected in females and males

Female Male Female Male Female Male

XR XR  Xr Y XR Xr  XR Y XR Xr  Xr Y

Sperm Sperm Sperm

Xr Y XR Y Xr Y

Eggs XR XR Xr XR Y XR XR XR XR Y XR XR Xr XR Y
Eggs Eggs

R = red-eye allele Xr Xr XR Xr Y Xr Xr Xr Xr Y
r = white-eye allele

Figure 9.23 B Figure 9.23 C Figure 9.23 D

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 CONNECTION
9.24 Sex-linked disorders affect mostly males
• Most sex-linked human disorders
– Are due to recessive alleles
– Are mostly seen in males

Queen Albert
victoria

Alice Louis

Alexandra Czar
Nicholas II
of Russia

Figure 9.24 A Figure 9.24 B Alexis

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 • A male receiving a single X-linked allele from
his mother
– Will have the disorder
• A female
– Has to receive the allele from both parents
to be affected

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