General Biology 2

H y =n y
n= 14
Chapter
Mendel and the
Gene Idea
Key Concepts
Concept 14.1: Mendel used the scientific approach
to identify two laws of inheritance
Concept 14.2: The laws of probability govern
Mendelian inheritance
Concept 14.3: Inheritance patterns are often more
complex than predicted by simple Mendelian
genetics
Concept 14.4: Many human traits follow
Mendelian patterns of inheritance
You should be able to:

1. Define the following terms: true breeding,

hybridization, monohybrid cross, P generation,
F1 generation, F2 generation
2. Distinguish between the following pairs of
terms: dominant and recessive; heterozygous
and homozygous; genotype and phenotype
3. Use a Punnett square to predict the results of
a cross and to state the phenotypic and
genotypic ratios of the F2 generation

Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

4. Explain how phenotypic expression in the
heterozygote differs with complete
dominance, incomplete dominance, and
codominance
5. Define and give examples of pleiotropy and
epistasis
6. Explain why lethal dominant genes are much
rarer than lethal recessive genes
7. Explain how carrier recognition, fetal testing,
and newborn screening can be used in
genetic screening and counseling
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Overview: Drawing from the Deck of Genes

• What genetic principles account for the passing

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

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

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Fig. 14-1
Concept 14.1: Mendel used the scientific approach
to identify two laws of inheritance
• Mendel discovered the basic principles of
heredity by breeding garden peas in carefully
planned experiments

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Mendel’s Experimental, Quantitative Approach

• Advantages of pea plants for genetic study:

– There are many varieties with distinct heritable
features, or characters (such as flower color);
character variants (such as purple or white
flowers) are called traits
– Mating of plants can be controlled
– Each pea plant has sperm-producing organs
(stamens) and egg-producing organs (carpels)
– Cross-pollination (fertilization between different
plants) can be achieved by dusting one plant
with pollen from another
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 14-2
TECHNIQUE
1

Parental
generation
(P) Stamens
Carpel
3

RESULTS
First 5
filial
gener-
ation
offspring
(F1)
Fig. 14-2a

TECHNIQUE
1

Parental
generation
(P) Stamens
Carpel
3

4
Fig. 14-2b

RESULTS
First 5
filial
gener-
ation
offspring
(F1)
• Mendel chose to track only those characters
that varied in an either-or manner
• He also used varieties that were true-breeding
(plants that produce offspring of the same
variety when they self-pollinate)

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• In a typical experiment, Mendel mated two
contrasting, true-breeding varieties, a process
called hybridization
• The true-breeding parents are the P
generation
• The hybrid offspring of the P generation are
called the F1 generation
• When F1 individuals self-pollinate, the F2
generation is produced
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The Law of Segregation

• When Mendel crossed contrasting, true-

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

Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fig. 14-3-1
EXPERIMENT

P Generation 
(true-breeding
parents) Purple White
flowers flowers
Fig. 14-3-2
EXPERIMENT

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

F1 Generation
(hybrids)
All plants had
purple flowers
Fig. 14-3-3
EXPERIMENT

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

F1 Generation
(hybrids)
All plants had
purple flowers

F2 Generation

705 purple-flowered 224 white-flowered

plants plants
• Mendel reasoned that only the purple flower
factor was affecting flower color in the F1 hybrids
• Mendel called the purple flower color a dominant
trait and the white flower color a recessive trait
• Mendel observed the same pattern of inheritance
in six other pea plant characters, each
represented by two traits
• What Mendel called a “heritable factor” is what
we now call a gene
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Table 14-1
Mendel’s Model

• Mendel developed a hypothesis to explain the

3:1 inheritance pattern he observed in F2
offspring
• Four related concepts make up this model
• These concepts can be related to what we now
know about genes and chromosomes

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• The first concept is that alternative versions of
genes account for variations in inherited
characters
• For example, the gene for flower color in pea
plants exists in two versions, one for purple
flowers and the other for white flowers
• These alternative versions of a gene are now
called alleles
• Each gene resides at a specific locus on a
specific chromosome
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Fig. 14-4

Allele for purple flowers

Homologous
Locus for flower-color gene pair of
chromosomes

Allele for white flowers

• The second concept is that for each character
an organism inherits two alleles, one from each
parent
• Mendel made this deduction without knowing
about the role of chromosomes
• The two alleles at a locus on a chromosome
may be identical, as in the true-breeding plants
of Mendel’s P generation
• Alternatively, the two alleles at a locus may
differ, as in the F1 hybrids
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• The third concept is that if the two alleles at a
locus differ, then one (the dominant allele)
determines the organism’s appearance, and
the other (the recessive allele) has no
noticeable effect on appearance
• In the flower-color example, the F1 plants had
purple flowers because the allele for that trait is
dominant

Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

• The fourth concept, now known as the law of
segregation, states that the two alleles for a
heritable character separate (segregate) during
gamete formation and end up in different
gametes
• Thus, an egg or a sperm gets only one of the
two alleles that are present in the somatic cells
of an organism
• This segregation of alleles corresponds to the
distribution of homologous chromosomes to
different gametes in meiosis
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• Mendel’s segregation model accounts for the
3:1 ratio he observed in the F2 generation of
his numerous crosses
• The possible combinations of sperm and egg
can be shown using a Punnett square, a
diagram for predicting the results of a genetic
cross between individuals of known genetic
makeup
• A capital letter represents a dominant allele,
and a lowercase letter represents a recessive
allele
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 14-5-1

P Generation

Appearance: Purple flowers White flowers

Genetic makeup: PP pp

Gametes: P p
Fig. 14-5-2

P Generation

Appearance: Purple flowers White flowers

Genetic makeup: PP pp

Gametes: P p

F1 Generation

Appearance: Purple flowers

Genetic makeup: Pp
Gametes: 1/
2 P 1/
2 p
Fig. 14-5-3

P Generation

Appearance: Purple flowers White flowers

Genetic makeup: PP pp

Gametes: P p

F1 Generation

Appearance: Purple flowers

Genetic makeup: Pp
Gametes: 1/
2 P 1/
2 p

Sperm
F2 Generation P p

P
PP Pp
Eggs

p
Pp pp

3 1
Useful Genetic Vocabulary

• An organism with two identical alleles for a

character is said to be homozygous for the
gene controlling that character
• An organism that has two different alleles for a
gene is said to be heterozygous for the gene
controlling that character
• Unlike homozygotes, heterozygotes are not
true-breeding

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• Because of the different effects of dominant
and recessive alleles, an organism’s traits do
not always reveal its genetic composition
• Therefore, we distinguish between an
organism’s phenotype, or physical
appearance, and its genotype, or genetic
makeup
• In the example of flower color in pea plants, PP
and Pp plants have the same phenotype
(purple) but different genotypes
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 14-6
Phenotype Genotype

Purple PP
1
(homozygous)

3 Purple Pp
(heterozygous)

Purple Pp
(heterozygous)

White pp
1 1
(homozygous)

Ratio 3:1 Ratio [Link]

The Testcross

• How can we tell the genotype of an individual

with the dominant phenotype?
• Such an individual must have one dominant
allele, but the individual could be either
homozygous dominant or heterozygous
• The answer is to carry out a testcross: breeding
the mystery individual with a homozygous
recessive individual
• If any offspring display the recessive phenotype,
the mystery parent must be heterozygous
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 14-7
TECHNIQUE

Dominant phenotype, Recessive phenotype,

unknown genotype: known genotype:
PP or Pp? pp

Predictions

If PP If Pp
or
Sperm Sperm
p p p p

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

RESULTS

or
All offspring purple 1/2 offspring purple and
1/2 offspring white
Fig. 14-7a

TECHNIQUE

Dominant phenotype, Recessive phenotype,

unknown genotype: known genotype:
PP or Pp? pp

Predictions

If PP If Pp
or
Sperm Sperm
p p p p

P P
Pp Pp Pp Pp
Eggs Eggs
P p
Pp Pp pp pp
Fig. 14-7b

RESULTS

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

• Mendel derived the law of segregation by

following a single character
• The F1 offspring produced in this cross were
monohybrids, individuals that are
heterozygous for one character
• A cross between such heterozygotes is called a
monohybrid cross

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

Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fig. 14-8
EXPERIMENT
P Generation YYRR yyrr

Gametes YR  yr

F1 Generation
YyRr

Hypothesis of Hypothesis of
dependent independent
Predictions
assortment assortment

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

Phenotypic ratio [Link]

RESULTS
315 108 101 32 Phenotypic ratio approximately [Link]
Fig. 14-8a

EXPERIMENT
P Generation YYRR yyrr

Gametes YR  yr

F1 Generation
YyRr

Hypothesis of Hypothesis of
Predictions dependent independent
assortment assortment

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

Phenotypic ratio [Link]

Fig. 14-8b

RESULTS
315 108 101 32 Phenotypic ratio approximately [Link]
• Using a dihybrid cross, Mendel developed the
law of independent assortment
• The law of independent assortment states that
each pair of alleles segregates independently
of each other pair of alleles during gamete
formation
• Strictly speaking, this law applies only to genes
on different, nonhomologous chromosomes
• Genes located near each other on the same
chromosome tend to be inherited together
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Concept 14.2: The laws of probability govern
Mendelian inheritance
• Mendel’s laws of segregation and independent
assortment reflect the rules of probability
• When tossing a coin, the outcome of one toss
has no impact on the outcome of the next toss
• In the same way, the alleles of one gene
segregate into gametes independently of
another gene’s alleles

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The Multiplication and Addition Rules Applied to
Monohybrid Crosses
• The multiplication rule states that the
probability that two or more independent
events will occur together is the product of their
individual probabilities
• Probability in an F1 monohybrid cross can be
determined using the multiplication rule
• Segregation in a heterozygous plant is like
flipping a coin: Each gamete has a 12 chance of
1
carrying the dominant allele and a 2 chance of
carrying the recessive allele
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Fig. 14-9
Rr  Rr
Segregation of Segregation of
alleles into eggs alleles into sperm

Sperm

1/ 1/
2 R 2 r

R R
1/ R r
2 R

1/ 1/
4 4
Eggs

r r
1/ R r
2 r

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

Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Solving Complex Genetics Problems with the Rules
of Probability
• We can apply the multiplication and addition
rules to predict the outcome of crosses
involving multiple characters
• A dihybrid or other multicharacter cross is
equivalent to two or more independent
monohybrid crosses occurring simultaneously
• In calculating the chances for various
genotypes, each character is considered
separately, and then the individual probabilities
are multiplied together
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Fig. 14-UN1
Concept 14.3: Inheritance patterns are often more
complex than predicted by simple Mendelian
genetics
• The relationship between genotype and
phenotype is rarely as simple as in the pea
plant characters Mendel studied
• Many heritable characters are not determined
by only one gene with two alleles
• However, the basic principles of segregation
and independent assortment apply even to
more complex patterns of inheritance

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Extending Mendelian Genetics for a Single Gene

• Inheritance of characters by a single gene may

deviate from simple Mendelian patterns in the
following situations:
– When alleles are not completely dominant or
recessive
– When a gene has more than two alleles
– When a gene produces multiple phenotypes

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Degrees of Dominance

• Complete dominance occurs when

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

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Fig. 14-10-1

P Generation
Red White
CRCR CWCW

Gametes CR CW
Fig. 14-10-2

P Generation
Red White
CRCR CWCW

Gametes CR CW

Pink
F1 Generation CRCW

Gametes 1/2 CR 1/
2 CW
Fig. 14-10-3

P Generation
Red White
CRCR CWCW

Gametes CR CW

Pink
F1 Generation CRCW

Gametes 1/2 CR 1/
2 CW

Sperm
1/ 1/
2 CR 2 CW
F2 Generation
1/
2 CR
Eggs CRCR CRCW

1/
2 CW
CRCW CWCW
The Relation Between Dominance and
Phenotype

• A dominant allele does not subdue a recessive

allele; alleles don’t interact
• Alleles are simply variations in a gene’s
nucleotide sequence
• For any character, dominance/recessiveness
relationships of alleles depend on the level at
which we examine the phenotype
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• Tay-Sachs disease is fatal; a dysfunctional
enzyme causes an accumulation of lipids in the
brain
– At the organismal level, the allele is recessive
– At the biochemical level, the phenotype (i.e.,
the enzyme activity level) is incompletely
dominant
– At the molecular level, the alleles are
codominant

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Frequency of Dominant Alleles
• Dominant alleles are not necessarily more
common in populations than recessive alleles
• For example, one baby out of 400 in the United
States is born with extra fingers or toes

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• The allele for this unusual trait is dominant to
the allele for the more common trait of five
digits per appendage
• In this example, the recessive allele is far more
prevalent than the population’s dominant allele

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Multiple Alleles

• Most genes exist in populations in more than

two allelic forms
• For example, the four phenotypes of the ABO
blood group in humans are determined by
three alleles for the enzyme (I) that attaches A
or B carbohydrates to red blood cells: IA, IB,
and i.
• The enzyme encoded by the IA allele adds the
A carbohydrate, whereas the enzyme encoded
by the IB allele adds the B carbohydrate; the
enzyme encoded by the i allele adds neither
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Fig. 14-11
Allele Carbohydrate
IA A
IB B
i none
(a) The three alleles for the ABO blood groups
and their associated carbohydrates

Red blood cell Phenotype

Genotype appearance (blood group)

IAIA or IA i A

IBIB or IB i B

IAIB AB

ii O
(b) Blood group genotypes and phenotypes
Pleiotropy

• Most genes have multiple phenotypic effects, a

property called pleiotropy
• For example, pleiotropic alleles are responsible
for the multiple symptoms of certain hereditary
diseases, such as cystic fibrosis and sickle-cell
disease

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Extending Mendelian Genetics for Two or More
Genes
• Some traits may be determined by two or more
genes

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Epistasis

• In epistasis, a gene at one locus alters the

phenotypic expression of a gene at a second
locus
• For example, in mice and many other
mammals, coat color depends on two genes
• One gene determines the pigment color (with
alleles B for black and b for brown)
• The other gene (with alleles C for color and c
for no color) determines whether the pigment
will be deposited in the hair
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 14-12


BbCc BbCc

Sperm
1/ 1/ 1/ 1/
4 BC 4 bC 4 Bc 4 bc
Eggs
1/
4 BC
BBCC BbCC BBCc BbCc
1/
4 bC
BbCC bbCC BbCc bbCc
1/
4 Bc
BBCc BbCc BBcc Bbcc
1/
4 bc
BbCc bbCc Bbcc bbcc

9 : 3 : 4
Polygenic Inheritance

• Quantitative characters are those that vary in

the population along a continuum
• Quantitative variation usually indicates
polygenic inheritance, an additive effect of
two or more genes on a single phenotype
• Skin color in humans is an example of
polygenic inheritance

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Fig. 14-13

AaBbCc AaBbCc

Sperm
1/ 1/ 1/ 1/ 1/ 1/ 1/ 1/
8 8 8 8 8 8 8 8

1/
8
1/
8
1/
8
1/
8
Eggs
1/
8
1/
8
1/
8
1/
8

Phenotypes: 1/
64
6/
64
15/
64
20/
64
15/
64
6/
64
1/
64
Number of
dark-skin alleles: 0 1 2 3 4 5 6
Nature and Nurture: The Environmental Impact
on Phenotype
• Another departure from Mendelian genetics
arises when the phenotype for a character
depends on environment as well as genotype
• The norm of reaction is the phenotypic range
of a genotype influenced by the environment
• For example, hydrangea flowers of the same
genotype range from blue-violet to pink,
depending on soil acidity

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Fig. 14-14
• Norms of reaction are generally broadest for
polygenic characters
• Such characters are called multifactorial
because genetic and environmental factors
collectively influence phenotype

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Integrating a Mendelian View of Heredity and
Variation
• An organism’s phenotype includes its physical
appearance, internal anatomy, physiology, and
behavior
• An organism’s phenotype reflects its overall
genotype and unique environmental history

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Concept 14.4: Many human traits follow
Mendelian patterns of inheritance
• Humans are not good subjects for genetic
research
– Generation time is too long

– Parents produce relatively few offspring

– Breeding experiments are unacceptable

• However, basic Mendelian genetics endures as

the foundation of human genetics

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Pedigree Analysis

• A pedigree is a family tree that describes the

interrelationships of parents and children
across generations
• Inheritance patterns of particular traits can be
traced and described using pedigrees

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Fig. 14-15
Key
Male Affected Mating
male
Offspring, in
Female Affected
birth order
female (first-born on left)

1st generation
(grandparents) Ww ww ww Ww

2nd generation
(parents, aunts,
and uncles) Ww ww ww Ww Ww ww

3rd generation
(two sisters)
WW ww
or
Ww

Widow’s peak No widow’s peak

(a) Is a widow’s peak a dominant or recessive trait?

1st generation
(grandparents) Ff Ff ff Ff

2nd generation
(parents, aunts,
and uncles) FF or Ff ff ff Ff Ff ff

3rd generation
(two sisters)
ff FF
or
Ff

Attached earlobe Free earlobe

(b) Is an attached earlobe a dominant or recessive trait?
Fig. 14-15a

Key
Male Affected Mating
male
Female Offspring, in
Affected birth order
female (first-born on left)
Fig. 14-15b

1st generation
(grandparents) Ww ww ww Ww

2nd generation
(parents, aunts,
and uncles) Ww ww ww Ww Ww ww

3rd generation
(two sisters)

WW ww
or
Ww

Widow’s peak No widow’s peak

(a) Is a widow’s peak a dominant or recessive trait?
Fig. 14-15c

1st generation
(grandparents) Ff Ff ff Ff

2nd generation
(parents, aunts,
and uncles) FF or Ff ff ff Ff Ff ff

3rd generation
(two sisters)

ff FF
or
Ff

Attached earlobe Free earlobe

(b) Is an attached earlobe a dominant or recessive trait?

• Pedigrees can also be used to make
predictions about future offspring
• We can use the multiplication and addition
rules to predict the probability of specific
phenotypes

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Recessively Inherited Disorders

• Many genetic disorders are inherited in a

recessive manner

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The Behavior of Recessive Alleles

• Recessively inherited disorders show up only in

individuals homozygous for the allele
• Carriers are heterozygous individuals who
carry the recessive allele but are phenotypically
normal (i.e., pigmented)
• Albinism is a recessive condition characterized
by a lack of pigmentation in skin and hair

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Fig. 14-16

Parents
Normal Normal
Aa  Aa

Sperm
A a
Eggs
Aa
AA
A Normal
Normal (carrier)

Aa
Normal aa
a Albino
(carrier)
• If a recessive allele that causes a disease is
rare, then the chance of two carriers meeting
and mating is low
• Consanguineous matings (i.e., matings
between close relatives) increase the chance
of mating between two carriers of the same
rare allele
• Most societies and cultures have laws or
taboos against marriages between close
relatives
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Cystic Fibrosis

• Cystic fibrosis is the most common lethal

genetic disease in the United States,striking
one out of every 2,500 people of European
descent
• The cystic fibrosis allele results in defective or
absent chloride transport channels in plasma
membranes
• Symptoms include mucus buildup in some
internal organs and abnormal absorption of
nutrients in the small intestine
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Sickle-Cell Disease

• Sickle-cell disease affects one out of 400

African-Americans
• The disease is caused by the substitution of a
single amino acid in the hemoglobin protein in
red blood cells
• Symptoms include physical weakness, pain,
organ damage, and even paralysis

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Dominantly Inherited Disorders

• Some human disorders are caused by

dominant alleles
• Dominant alleles that cause a lethal disease
are rare and arise by mutation
• Achondroplasia is a form of dwarfism caused
by a rare dominant allele

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Fig. 14-17

Parents
Dwarf Normal
Dd  dd

Sperm
D d
Eggs
Dd dd
d
Dwarf Normal

Dd dd
d Normal
Dwarf
Huntington’s Disease

• Huntington’s disease is a degenerative

disease of the nervous system
• The disease has no obvious phenotypic effects
until the individual is about 35 to 40 years of
age

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Multifactorial Disorders

• Many diseases, such as heart disease and

cancer, have both genetic and environmental
components
• Little is understood about the genetic
contribution to most multifactorial diseases

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Genetic Testing and Counseling

• Genetic counselors can provide information to

prospective parents concerned about a family
history for a specific disease

Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Counseling Based on Mendelian Genetics and
Probability Rules
• Using family histories, genetic counselors help
couples determine the odds that their children
will have genetic disorders

Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Tests for Identifying Carriers

• For a growing number of diseases, tests are

available that identify carriers and help define
the odds more accurately

Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fetal Testing

• In amniocentesis, the liquid that bathes the

fetus is removed and tested
• In chorionic villus sampling (CVS), a sample
of the placenta is removed and tested
• Other techniques, such as ultrasound and
fetoscopy, allow fetal health to be assessed
visually in utero

Video: Ultrasound of Human Fetus I

Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fig. 14-18

Amniotic fluid
withdrawn

Fetus Centrifugation
Fetus
Suction tube
inserted
Placenta through
Placenta Chorionic
Uterus Cervix villi cervix

Fluid
Bio-
Fetal Several chemical
cells hours tests Fetal
Several cells
hours
Several
weeks

Several Several
weeks Karyotyping hours

(a) Amniocentesis (b) Chorionic villus sampling (CVS)

Fig. 14-18a
Amniotic fluid
withdrawn

Fetus Centrifugation

Placenta
Uterus Cervix

Fluid
Bio-
Fetal Several chemical
cells hours tests

Several
weeks

Several
weeks Karyotyping

(a) Amniocentesis
Fig. 14-18b

Fetus
Suction tube
inserted
Placenta Chorionic through
villi cervix

Bio-
chemical
tests Fetal
Several
cells
hours

Several
Karyotyping hours

(b) Chorionic villus sampling (CVS)

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

Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fig. 14-UN2

Degree of dominance Description Example

Complete dominance Heterozygous phenotype

of one allele same as that of homo- PP Pp
zygous dominant

Incomplete dominance Heterozygous phenotype

of either allele intermediate between
the two homozygous
phenotypes
C RC R C RC W C WC W

Codominance Heterozygotes: Both

phenotypes expressed IAIB

Multiple alleles In the whole population, ABO blood group alleles

some genes have more
than two alleles IA , IB , i

Pleiotropy One gene is able to Sickle-cell disease

affect multiple
phenotypic characters
Fig. 14-UN3
Relationship among
genes Description Example

Epistasis One gene affects BbCc BbCc

the expression of
another BC bC Bc bc
BC
bC
Bc
bc

9 :3 :4
Polygenic A single phenotypic
inheritance character is AaBbCc AaBbCc
affected by
two or more genes
Fig. 14-UN4
References:

Urry, L. A., Cain, M. L., Wasserman, S. A., Minorsky, P. V., Reece, J.

B., & Jackson, R. B. (2011). Campbell biology. New York: Pearson
Higher Education.

Urry, L., Cain, M., Wasserman, S., Minorsky, P., & Reece, J. (2017).
Campbell biology. New York, United States of America: Pearson
Higher Education.