CAMPBELL

Drawing from the Deck of Genes

BIOLOGY TENTH
EDITION

Reece • Urry • Cain • Wasserman • Minorsky • Jackson

§  What principles account for the passing of traits
from parents to offspring?

14 §  The “blending” hypothesis is the idea that genetic

material from the two parents blends together
(like blue and yellow paint blend to make green)
Mendel and the Gene Idea

Lecture Presentation by
Nicole Tunbridge and
Kathleen Fitzpatrick

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Figure 14.1

§  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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Figure 14.1a

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

Mendel (third from right, holding a sprig of fuchsia)

with his fellow monks.

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 Mendel’s Experimental, Quantitative Approach

§  Mendel’s approach allowed him to deduce §  Other advantages of using peas
principles that had remained elusive to others
§  Short generation time
§  A heritable feature that varies among individuals
§  Large numbers of offspring
(such as flower color) is called a character
§  Mating could be controlled; plants could be allowed
§  Each variant for a character, such as purple or to self-pollinate or could be cross pollinated
white color for flowers, is called a trait

§  Peas were available to Mendel in many different

varieties

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Figure 14.2
Technique
1

2
§  Mendel chose to track only those characters that
Stamens
occurred in two distinct alternative forms
Parental
generation §  He also used varieties that were true-breeding
(P)
Carpel (plants that produce offspring of the same variety
3 when they self-pollinate)
4

Results
5
First filial
generation
offspring
(F1)

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The Law of Segregation

§  In a typical experiment, Mendel mated two §  When Mendel crossed contrasting, true-breeding
contrasting, true-breeding varieties, a process white- and purple-flowered pea plants, all of the F1
called hybridization hybrids were purple
§  The true-breeding parents are the P generation §  When Mendel crossed the F1 hybrids, many of the
F2 plants had purple flowers, but some had white
§  The hybrid offspring of the P generation are called
the F1 generation §  Mendel discovered a ratio of about three to one,
purple to white flowers, in the F2 generation
§  When F1 individuals self-pollinate or cross-
pollinate with other F1 hybrids, the F2 generation
is produced

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2
Figure 14.3-1 Figure 14.3-2
Experiment Experiment

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

F1 Generation
(hybrids)
All plants had purple flowers
Self- or cross-pollination

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Figure 14.3-3
Experiment

P Generation
(true-breeding
parents) Purple White
§  Mendel reasoned that only the purple flower factor
flowers flowers was affecting flower color in the F1 hybrids
§  Mendel called the purple flower color a dominant
F1 Generation trait and the white flower color a recessive trait
(hybrids)
All plants had purple flowers
Self- or cross-pollination §  The factor for white flowers was not diluted or
destroyed because it reappeared in the F2
generation
F2 Generation

705 purple-flowered 224 white-flowered

plants plants
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Table 14.1

§  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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 Mendel s Model

§  Mendel developed a hypothesis to explain the 3:1 §  First: alternative versions of genes account for
inheritance pattern he observed in F2 offspring variations in inherited characters
§  Four related concepts make up this model §  For example, the gene for flower color in pea
plants exists in two versions, one for purple
§  These concepts can be related to what we now flowers and the other for white flowers
know about genes and chromosomes
§  These alternative versions of a gene are called
alleles
§  Each gene resides at a specific locus on a specific
chromosome

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Figure 14.4

Enzyme §  Second: for each character, an organism inherits

C T A A A T C G G T

G A T T T A G C C A
two alleles, one from each parent
Allele for
purple flowers Enzyme that helps
§  Mendel made this deduction without knowing
CTAAATCGGT
synthesize purple
pigment
Locus for Pair of about chromosomes
flower-color gene homologous
chromosomes
One allele
results in
§  The two alleles at a particular locus may be
Allele for
white flowers
sufficient identical, as in the true-breeding plants of
Absence of enzyme pigment
A T A A A T C G G T
Mendel s P generation
T A T T T A G C C A

ATAAATCGGT
§  Alternatively, the two alleles at a locus may differ,
as in the F1 hybrids

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§  Third: if the two alleles at a locus differ, then one §  Fourth (the law of segregation): the two alleles
(the dominant allele) determines the organism s for a heritable character separate (segregate)
appearance, and the other (the recessive allele) during gamete formation and end up in different
has no noticeable effect on appearance gametes

§  In the flower-color example, the F1 plants had §  Thus, an egg or a sperm gets only one of the two
purple flowers because the allele for that trait alleles that are present in the organism
is dominant
§  This segregation of alleles corresponds to the
distribution of homologous chromosomes to
different gametes in meiosis

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 Figure 14.5-1
P Generation

Appearance: Purple flowers White flowers

Genetic makeup: PP pp
§  The model accounts for the 3:1 ratio observed in Gametes: P p

the F2 generation of Mendel’s crosses

§  Possible combinations of sperm and egg can be
shown using a Punnett square
§  A capital letter represents a dominant allele, and a
lowercase letter represents a recessive allele

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Figure 14.5-2 Figure 14.5-3

P Generation P Generation

Appearance: Purple flowers White flowers Appearance: Purple flowers White flowers
Genetic makeup: PP pp Genetic makeup: PP pp
Gametes: P p Gametes: P p

F1 Generation F1 Generation

Appearance: Purple flowers Appearance: Purple flowers

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

Sperm from F1 (Pp) plant

F2 Generation P p

P
Eggs from PP Pp
F1 (Pp) plant
p
Pp pp

3 :1

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Useful Genetic Vocabulary

§  An organism with two identical alleles for a §  Because of the different effects of dominant and
character is homozygous for the gene controlling recessive alleles, an organism s traits do not
that character always reveal its genetic composition
§  An organism that has two different alleles for a §  Therefore, we distinguish between an organism s
gene is heterozygous for the gene controlling that phenotype, or physical appearance, and its
character genotype, or genetic makeup

§  Unlike homozygotes, heterozygotes are not true- §  In the example of flower color in pea plants, PP
breeding and Pp plants have the same phenotype (purple)
but different genotypes

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Figure 14.6
Phenotype Genotype
The Testcross
Purple PP
1
(homozygous)
§  An individual with the dominant phenotype could
be either homozygous dominant or heterozygous
Pp
3 Purple
(heterozygous)
§  To determine the genotype we can carry out a
testcross: breeding the mystery individual with a
2
homozygous recessive individual
Purple Pp
(heterozygous)
§  If any offspring display the recessive phenotype,
the mystery parent must be heterozygous
pp
1 White 1
(homozygous)

Ratio 3:1 Ratio 1:2:1

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Figure 14.7
Technique
The Law of Independent Assortment
Dominant phenotype, Recessive phenotype,
unknown genotype:
PP or Pp?
known genotype:
pp
§  Mendel derived the law of segregation by following
a single character
Predictions
If purple-flowered or
parent is PP
If purple-flowered
parent is Pp
§  The F1 offspring produced in this cross were
Sperm Sperm monohybrids, heterozygous for one character
p p p p

P P
§  A cross between such heterozygotes is called
Eggs
Pp Pp
Eggs
Pp Pp a monohybrid cross
P p
Pp Pp pp pp

Results
or
All offspring purple 1 2 offspring purple and
1 2offspring white
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Figure 14.8
Experiment

P Generation YYRR yyrr

Gametes YR yr

§  Mendel identified his second law of inheritance by F1 Generation

YyRr
following two characters at the same time
Predictions Hypothesis of Hypothesis of
§  Crossing two true-breeding parents differing in two dependent assortment independent assortment
Sperm
Predicted or
characters produces dihybrids in the F1 offspring of Sperm
1
4 YR 1
4 Yr 1
4 yR 1
4 yr

F2 generation 1 YR 1 yr
generation, heterozygous for both characters
2 2
1
4 YR
YYRR YYRr YyRR YyRr
1
2 YR
YYRR YyRr 1 Yr
Eggs 4

§  A dihybrid cross, a cross between F1 dihybrids, 1

2 yr
YyRr yyrr
Eggs
1 yR
YYRr YYrr YyRr Yyrr

can determine whether two characters are

4
YyRR YyRr yyRR yyRr
3 1
4 4

transmitted to offspring as a package or

1
4 yr
Phenotypic ratio 3:1 YyRr Yyrr yyRr yyrr

independently
9 3 3 1
16 16 16 16

Phenotypic ratio 9:3:3:1

Results

315 108 101 32 Phenotypic ratio approximately 9:3:3:1

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 Concept 14.2: Probability laws govern
Mendelian inheritance
§  Using a dihybrid cross, Mendel developed the law §  Mendel’s laws of segregation and independent
of independent assortment assortment reflect the rules of probability
§  It states that each pair of alleles segregates §  When tossing a coin, the outcome of one toss has
independently of each other pair of alleles during no impact on the outcome of the next toss
gamete formation
§  In the same way, the alleles of one gene
§  This law applies only to genes on different, segregate into gametes independently of another
nonhomologous chromosomes or those far apart gene’s alleles
on the same chromosome

§  Genes located near each other on the same

chromosome tend to be inherited together
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Figure 14.9
Rr Rr
The Multiplication and Addition Rules Applied Segregation of Segregation of
to Monohybrid Crosses alleles into eggs alleles into sperm

§  The multiplication rule states that the probability

that two or more independent events will occur Sperm
together is the product of their individual
probabilities 1
2 R 1
2 r

§  Probability in an F1 monohybrid cross can be R R

determined using the multiplication rule 1
2 R R r

§  Segregation in a heterozygous plant is like flipping Eggs

1
4
1
4

a coin: Each gamete has a ½ chance of carrying

r r
the dominant allele and a ½ chance of carrying the 1 r R r
2
recessive allele
1 1
4 4

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Solving Complex Genetics Problems with the

Rules of Probability
§  The addition rule states that the probability that §  We can apply the multiplication and addition rules
any one of two or more exclusive events will occur to predict the outcome of crosses involving
is calculated by adding together their individual multiple characters
probabilities
§  A multicharacter cross is equivalent to two or more
§  The rule of addition can be used to figure out the independent monohybrid crosses occurring
probability that an F2 plant from a monohybrid simultaneously
cross will be heterozygous rather than
homozygous §  In calculating the chances for various genotypes,
each character is considered separately, and then
the individual probabilities are multiplied

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 Concept 14.3: Inheritance patterns are often Extending Mendelian Genetics for a Single Gene
more complex than predicted by simple
Mendelian genetics §  Inheritance of characters by a single gene may
§  The relationship between genotype and phenotype deviate from simple Mendelian patterns in the
is rarely as simple as in the pea plant characters following situations:
Mendel studied
§  When alleles are not completely dominant or
§  Many heritable characters are not determined by recessive
only one gene with two alleles §  When a gene has more than two alleles
§  However, the basic principles of segregation and §  When a gene produces multiple phenotypes
independent assortment apply even to more
complex patterns of inheritance

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Figure 14.10-1

Degrees of Dominance P Generation

Red White
C RC R CWCW
§  Complete dominance occurs when phenotypes Gametes CR CW
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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Figure 14.10-2 Figure 14.10-3

P Generation P Generation
Red White Red White
C RC R CWCW C RC R CWCW

Gametes CR CW Gametes CR CW

F1 Generation F1 Generation
Pink Pink
C RC W C RC W

Gametes 1
2 CR 1
2 CW Gametes 1
2 CR 1
2 CW

F2 Generation Sperm
1
2 CR 1
2 CW

1
2 CR
Eggs C RC R C RC W

1
2 CW
C RC W CWCW

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 The Relation Between Dominance and Phenotype §  Tay-Sachs disease is fatal; a dysfunctional
enzyme causes an accumulation of lipids in
§  A dominant allele does not subdue a recessive the brain
allele; alleles don t interact that way
§  At the organismal level, the allele is recessive
§  Alleles are simply variations in a gene s nucleotide
sequence §  At the biochemical level, the phenotype (i.e., the
enzyme activity level) is incompletely dominant
§  For any character, dominance/recessiveness
§  At the molecular level, the alleles are codominant
relationships of alleles depend on the level at
which we examine the phenotype

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Frequency of Dominant Alleles §  The allele for this unusual trait is dominant to the
allele for the more common trait of five digits per
§  Dominant alleles are not necessarily more appendage
common in populations than recessive alleles
§  In this example, the recessive allele is far more
§  For example, one baby out of 400 in the United prevalent than the population’s dominant allele
States is born with extra fingers or toes

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Figure 14.11

Multiple Alleles (a) The three alleles for the ABO blood groups and their
carbohydrates

§  Most genes exist in populations in more than two Allele IA IB i

allelic forms
Carbohydrate A B none
§  For example, the four phenotypes of the ABO
blood group in humans are determined by three (b) Blood group genotypes and phenotypes
alleles for the enzyme (I) that attaches A or B
Genotype IAIA or IAi IBIB or IBi IAIB ii
carbohydrates to red blood cells: IA, IB, and i.

§  The enzyme encoded by the IA allele adds the A Red blood cell
carbohydrate, whereas the enzyme encoded by appearance

the IB allele adds the B carbohydrate; the enzyme

encoded by the i allele adds neither Phenotype
A B AB O
(blood group)
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Pleiotropy Extending Mendelian Genetics for Two or More
Genes
§  Most genes have multiple phenotypic effects, a §  Some traits may be determined by two or more
property called pleiotropy genes
§  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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Figure 14.12

Epistasis BbEe BbEe

§  In epistasis, a gene at one locus alters the Sperm

1 BE 1 bE 1 Be 1 be
phenotypic expression of a gene at a second locus
4 4 4 4

Eggs
1 BE
4
§  For example, in Labrador retrievers and many BBEE BbEE BBEe BbEe

other mammals, coat color depends on two genes 1 bE

4
BbEE bbEE BbEe bbEe
§  One gene determines the pigment color (with
alleles B for black and b for brown) 1
4 Be
BBEe BbEe BBee Bbee

§  The other gene (with alleles E for color and e for 1
4 be
BbEe bbEe Bbee bbee
no color) determines whether the pigment will be
deposited in the hair
9 : 3 : 4

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Figure 14.13

Polygenic Inheritance
AaBbCc AaBbCc

Sperm
§  Quantitative characters are those that vary in the 1
8
1
8
1
8
1
8
1
8
1
8
1
8
1
8

population along a continuum 1

8

1
§  Quantitative variation usually indicates polygenic 8

inheritance, an additive effect of two or more

1
8

genes on a single phenotype

1
8
Eggs
1
8

§  Skin color in humans is an example of polygenic 1

8

inheritance 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
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10
 Figure 14.14

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 phenotypic range is broadest for polygenic
characters
§  Traits that depend on multiple genes combined
with environmental influences are called
multifactorial

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A Mendelian View of Heredity and Variation Concept 14.4: Many human traits follow
Mendelian patterns of inheritance
§  An organism’s phenotype includes its physical §  Humans are not good subjects for genetic
appearance, internal anatomy, physiology, and research
behavior
§  Generation time is too long
§  An organism’s phenotype reflects its overall
§  Parents produce relatively few offspring
genotype and unique environmental history
§  Breeding experiments are unacceptable

§  However, basic Mendelian genetics endures as

the foundation of human genetics

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Figure 14.15

Pedigree Analysis
Key
Offspring, in
Male Female Affected Affected Mating birth order
male female
(first-born on left)
§  A pedigree is a family tree that describes the
interrelationships of parents and children across 1st generation
(grandparents) Ww ww ww Ww Ff Ff ff Ff
generations
2nd generation
§  Inheritance patterns of particular traits can be (parents, aunts,
and uncles) Ww ww ww Ww Ww ww FF or Ff ff ff Ff Ff ff

traced and described using pedigrees 3rd generation

(two sisters)
WW ww ff FF
or or
Ww Ff

Widow’s peak No widow’s peak

(a) Is a widow’s peak a dominant or recessive trait?
Attached earlobe Free earlobe
(b) Is an attached earlobe a dominant
or recessive trait?

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11
 Recessively Inherited Disorders

§  Pedigrees can also be used to make predictions §  Many genetic disorders are inherited in a
about future offspring recessive manner
§  We can use the multiplication and addition rules to §  These range from relatively mild to life-threatening
predict the probability of specific phenotypes

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Figure 14.16

The Behavior of Recessive Alleles

§  Recessively inherited disorders show up only in Parents

individuals homozygous for the allele Normal Normal
Aa Aa

§  Carriers are heterozygous individuals who carry Sperm

the recessive allele but are phenotypically normal; A a

most individuals with recessive disorders are born Eggs

AA
Aa
A Normal
to carrier parents Normal
(carrier)
Aa
§  Albinism is a recessive condition characterized by a Normal aa
Albino
(carrier)
a lack of pigmentation in skin and hair

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Cystic Fibrosis

§  If a recessive allele that causes a disease is rare, §  Cystic fibrosis is the most common lethal genetic
then the chance of two carriers meeting and disease in the United States, striking one out of
mating is low every 2,500 people of European descent
§  Consanguineous matings (i.e., matings between §  The cystic fibrosis allele results in defective or
close relatives) increase the chance of mating absent chloride transport channels in plasma
between two carriers of the same rare allele membranes leading to a buildup of chloride ions
outside the cell
§  Most societies and cultures have laws or taboos
against marriages between close relatives §  Symptoms include mucus buildup in some internal
organs and abnormal absorption of nutrients in the
small intestine

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 Sickle-Cell Disease: A Genetic Disorder with
Evolutionary Implications
§  Sickle-cell disease affects one out of 400 African- §  Heterozygotes (said to have sickle-cell trait) are
Americans usually healthy but may suffer some symptoms
§  The disease is caused by the substitution of a §  About one out of ten African Americans has sickle-
single amino acid in the hemoglobin protein in red cell trait, an unusually high frequency
blood cells
§  Heterozygotes are less susceptible to the malaria
§  In homozygous individuals, all hemoglobin is parasite, so there is an advantage to being
abnormal (sickle-cell) heterozygous in regions where malaria is common
§  Symptoms include physical weakness, pain, organ
damage, and even paralysis

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Figure 14.17
Sickle-cell alleles
Dominantly Inherited Disorders
Low O2 Sickle-
cell
disease
§  Some human disorders are caused by dominant
Sickle-cell Part of a fiber of Sickled red
blood cells
alleles
hemoglobin sickle-cell hemo-
proteins globin proteins
(a) Homozygote with sickle-cell disease: Weakness, anemia, pain and fever, §  Dominant alleles that cause a lethal disease are
organ damage rare and arise by mutation
Sickle-cell allele
Normal allele §  Achondroplasia is a form of dwarfism caused by a
Very low O2 Sickle-
rare dominant allele
cell
trait

Sickle-cell and Part of a sickle-cell Sickled and

normal hemo- fiber and normal normal red
globin proteins hemoglobin proteins blood cells
(b) Heterozygote with sickle-cell trait: Some symptoms when blood oxygen is
very low; reduction of malaria symptoms
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Figure 14.18

Parents
Dwarf Normal §  The timing of onset of a disease significantly
Dd dd affects its inheritance
Sperm §  Huntington’s disease is a degenerative disease
D d of the nervous system
Eggs
Dd dd
§  The disease has no obvious phenotypic effects
d until the individual is about 35 to 40 years of age
Dwarf Normal

§  Once the deterioration of the nervous system

Dd dd
d Dwarf Normal
begins the condition is irreversible and fatal

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Multifactorial Disorders Genetic Testing and Counseling

§  Many diseases, such as heart disease, diabetes, §  Genetic counselors can provide information to
alcoholism, mental illnesses, and cancer have prospective parents concerned about a family
both genetic and environmental components history for a specific disease
§  No matter what our genotype, our lifestyle has a
tremendous effect on phenotype

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Counseling Based on Mendelian Genetics and Tests for Identifying Carriers

Probability Rules
§  Using family histories, genetic counselors help §  For a growing number of diseases, tests are
couples determine the odds that their children available that identify carriers and help define the
will have genetic disorders odds more accurately
§  It is important to remember that each child §  The tests enable people to make more informed
represents an independent event in the sense that decisions about having children
its genotype is unaffected by the genotypes of
older siblings §  However, they raise other issues, such as whether
affected individuals fully understand their genetic
test results

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Figure 14.19

Fetal Testing (a) Amniocentesis

Ultrasound
(b) Chorionic villus sampling (CVS)
1 Amniotic
monitor fluid Ultrasound
withdrawn monitor
§  In amniocentesis, the liquid that bathes the fetus Fetus 1
Fetus
is removed and tested Placenta
Placenta
Chorionic
Suction
tube
Uterus Cervix villi Cervix inserted
§  In chorionic villus sampling (CVS), a sample of Uterus through
cervix
the placenta is removed and tested Centrifugation
Several
Fluid hours Several
§  Other techniques, such as ultrasound and Fetal 2
Biochemical
and genetic
hours
Several Fetal cells
fetoscopy, allow fetal health to be assessed cells weeks tests

visually in utero 2

Several Several
weeks hours
3

Karyotyping
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14
Video: Ultrasound of Human Fetus 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
§  One common test is for phenylketonuria (PKU), a
recessively inherited disorder that occurs in one of
every 10,000–15,000 births in the United States

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15