Topic 1 Mendelian Genetics

Chapter 9
Patterns of Inheritance
PowerPoint Lectures
Campbell Biology: Concepts & Connections, Eighth Edition
REECE • TAYLOR • SIMON • DICKEY • HOGAN

© 2015 Pearson Education, Inc. Lecture by Edward J. Zalisko

Learning outcome
1. Define the following terms: true breeding, hybridization, monohybrid
cross, P generation, F1 generation, F2 generation, gene,
chromosome, locus and allele.
2. Distinguish between the following pairs of terms: dominant and
recessive; heterozygous and homozygous; genotype and phenotype
3. Describe Mendel’s principles of segregation and independent
assortment
4. Explain how a testcross can be used determine the genotype of an
individual with dominant phenotype
5. Use Punnett square or rules of probability to predict the results of a
cross
6. Solve genetics problems involving monohybrid and dihybrid crosses
for autosomal traits, with variations on Mendel’s laws
 MENDEL’S LAWS

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9.2 Experimental genetics began in an abbey
garden
 Heredity is the transmission of traits from one
generation to the next.
 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.
– relied upon a background of mathematics, physics, and
chemistry.

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Figure 9.2A

 In 1866, Mendel
• argued that parents pass
on to their offspring discrete
“heritable factors”.
• stressed that the heritable
factors (today called
genes), retain their
individuality generation
after generation.

Figure 9.2A Gregor Mendel

9.2 Experimental genetics began in an abbey
garden
Anatomy 解剖學 of a garden pea
flower
 The drawing omits one of the Petal
petals to show the stamen (♂) and
the carpel (♀)
 In nature, the petals of the pea
flower almost completely enclosed Carpel
Stamen
the reproductive organs
 Therefore, pea plants commonly
self-fertilise
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9.2 Experimental genetics began in an abbey
garden
 Advantages of pea plants for genetic study:
– 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.
– 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

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The 7 pea characters Character
Dominant
Traits
Recessive

studied by Mendel Flower color

Purple White
• The 7 characters occur in
two distinct forms Flower position

Axial Terminal
• Mendel chose to track only
Seed color
those characters that varied Yellow Green

in an either-or manner Seed shape

Round Wrinkled

• He also used varieties that Pod shape

Inflated Constricted
were true-breeding (self-
Pod color
fertilization produces Green Yellow

offspring all identical to the

parent) Stem length

Tall Dwarf
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9.2 Experimental genetics began in an abbey
garden
• In a typical experiment, Mendel mated two
contrasting, true-breeding varieties, a process called
hybridization (genetic cross)
• The true-breeding parental plants 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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9.2 Experimental genetics began in an abbey
garden

1. He prevented self-fertilisation by cutting off the

immature stamens of a plant before they produced
pollen.
2. To cross-fertilise the stamenless flower, he dusted
its carpel with pollen from another plant.
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9.2 Experimental genetics began in an abbey
garden
White

3. The carpel developed 1 Removal of

stamens
into a pod, containing
Stamens
seeds that he later Carpel 2 Transfer

planted. Parents
(P)
Purple of pollen

3 Carpel matures
into pea pod

4 Seeds from
pod planted

Offspring
(F1)

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 MENDEL’S FIRST LAW OF
INHERITANCE
LAW OF SEGREGATION

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9.3 Mendel’s law of segregation describes the
inheritance of a single character
 A cross between two individuals differing in a
single character is a monohybrid cross.
 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.
– A cross of F1 plants with each other produced an F2
generation with ¾ purple and ¼ white flowers.

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Figure 9.3A_s1
The Experiment
P generation
(true-breeding 
parents)
Purple White
flowers flowers
Figure 9.3A_s2
The Experiment
P generation
(true-breeding 
parents)
Purple White
flowers flowers

F1 generation All plants have

purple flowers
Figure 9.3A_s3
The Experiment
P generation
(true-breeding 
parents)
Purple White
flowers flowers

F1 generation All plants have

purple flowers

Fertilization
among F1 plants
(F1  F1)

F2 generation

3
of plants 1 of plants
4 4
have purple flowers have white flowers
9.3 Mendel’s law of segregation describes the
inheritance of a single character
 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 F 2
offspring.

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9.3 Mendel’s law of segregation describes the
inheritance of a single character
 Mendel developed four hypotheses, described
below using modern terminology.
1. Genes are located on chromosomes; the site a gene
occupies in the chromosome is its locus. Alleles are
alternative versions of genes that account for variations
in inherited characters.
继承
2. For each characteristic, an organism inherits two
alleles, one from each parent. The alleles can be the
same or different.
– A homozygous genotype has identical alleles.
– A heterozygous genotype has two different
alleles.
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Figure 9.4

Gene loci Dominant

allele
P a B

Homologous
chromosomes

P a b
Recessive
allele
Genotype: PP aa Bb
Homozygous Homozygous Heterozygous,
for the for the with one dominant
dominant recessive and one recessive
allele allele allele
9.3 Mendel’s law of segregation describes the
inheritance of a single character
3. In a heterozygous individual, dominant allele determines
the organism’s appearance. Recessive allele has no
noticeable effect on the organism’s appearance.
– The phenotype is the appearance or expression of a
trait.
– The genotype is the genetic makeup of a trait.
– The same phenotype may be determined by more
than one genotype.

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9.3 Mendel’s law of segregation describes the
inheritance of a single character
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 is
known as the law of segregation.

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 Each somatic cell of a
diploid individual carries
two alleles at any one
locus.
 The alleles of a gene pair
segregate (separate)
from each other during
anaphase I of meiosis,
which occurs during the
formation of gametes.
 Half of the gametes carry
one allele of a gene pair
while the other half carry
the other allele.
 The Explanation
Explanation of the P generation Genetic makeup (alleles)
crosses Purple flowers White flowers
PP pp

Gametes All P All p

 P represents the dominant
allele (for purple flower) F1 generation
and p stands for the (hybrids)

recessive allele (for white All Pp

flower)
 Consistent with hypothesis
4, each parental gametes
carried one allele
 As a result, all F1 hybrids
have a Pp genotype.
 Hypothesis 3 explains why all
of the F1 hybrids (Pp) had
purple flowers
 The dominant P allele has
its full effect in the
heterozygote
 The Explanation
Explanation of the P generation Genetic makeup (alleles)
crosses Purple flowers White flowers
PP pp

Gametes All P All p

 Mendel’s hypotheses also
explain the 3:1 ratio in the
F1 generation
F2 generation (hybrids)

All Pp
 A Punnett square shows
Alleles
the four possible Gametes 1
2
P segregate
1
2
p

combinations of alleles Fertilization

that could occur when F2 generation Sperm from F1 plant

p
these gametes combine. P

Phenotypic ratio P PP Pp
Eggs
3 purple : 1 white from F1
plant
Genotypic ratio p Pp pp
1 PP : 2 Pp : 1 pp
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Punnett square can be used to predict the
outcome of the crosses
 To construct a Punnett square, you must
know the genotypes of the parents:
1. Write down the genotypes of both
parents
 In the F2 generation, both parents
are heterozygous: Pp
2. Write down the possible gametes that
each parent can make
 Male and female gametes also P or
p
3. Create an empty Punnett square
4. Fill in the possible genotypes of the
offspring by combining the alleles of the
gametes
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 MENDEL’S SECOND LAW
OF INHERITANCE
LAW OF INDEPENDENT
ASSORTMENT

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9.5 The law of independent assortment is
revealed by tracking two characters at once
 A dihybrid cross is a mating of parental varieties
that differ in two characters.
 Mendel performed the following dihybrid cross with
the following results:
– 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

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Figure 9.5A: Two hypotheses for segregation in a dihybrid cross

P generation RRYY rryy

Gametes RY  ry

Sperm
F1 generation RrYy 1 1 1 1
4 RY 4
rY 4
Ry 4 ry
Sperm
1 1 1
2 RY 2
ry 4 RY
RRYY RrYY RRYy RrYy
1
2 RY 1
rY
4 9 Yellow
F2 generation Eggs RrYY rrYY RrYy rrYy 16 round
Eggs
1 ry 1 3 Green
2
4 Ry 16 round
RRYy RrYy RRyy Rryy
3 Yellow
1
16 wrinkled
4 ry
1 Green
RrYy rrYy Rryy rryy 16 wrinkled
The hypothesis of dependent assortment The hypothesis of independent assortment
Data did not support; hypothesis refuted Actual results; hypothesis supported
Two hypothesis for segregation in a dihybrid cross
Dependent assortment
 If the genes for the two
characteristics were
inherited together, then
the F1 hybrids would
produce only the same
two kinds of gametes –
RY and ry
 This hypothesis predicts
that the phenotypic ratio of
the F2 generation will be
3:1
Independent assortment
 If the two seed
characteristics segregated
independently, the F1
generation would produce
four gametes genotypes –
RY, rY, Ry, and ry
 The Punnett square
shows that there are 9
different genotypes but
only 4 phenotypes with a
ratio of 9:3:3:1
9.5 The law of independent assortment is
revealed by tracking two characters at once
 Mendel needed to explain why the F2 offspring
– had new nonparental combinations of traits and
– a 9:3:3:1 phenotypic ratio.

 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.

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9.5 The law of independent assortment is
revealed by tracking two characters at once
 Law of independent assortment
– Each pair of alleles segregates independently of the
other pairs of alleles during gamete formation
– For genotype RrYy, four gamete types are possible:
RY, Ry, rY, and ry

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Brooker1e

32
Does the arrangement of the
homologous chromosome pair
carrying alleles A, a at Metaphase
I depend on the arrangement of
the homologous chromosome pair
carrying alleles B, b also?

Answer: No
 Is the separation of alleles A, a depends on the separation of
alleles B, b?
 Do all possible combinations of alleles (i.e., AB, ab, Ab, aB)
have equal probability of ending up in a daughter cell?

The Law of Independent Assortment

 Is the separation of alleles A, a depends on the separation of
alleles B, b? No
 Do all possible combinations of alleles (i.e., AB, ab, Ab, aB)
have equal probability of ending up in a daughter cell? Yes

The Law of Independent Assortment

Review: the two laws of Mendel
 Law of segregation
 Diploid cells carry pairs of genes, on pairs of homologous
chromosomes
 The two genes of each pair are separated from each other
during meiosis (anaphase I), so they end up in different
gametes

 Law of independent assortment

 There are two ways in which two pairs of homologous
chromosomes can be arranged at metaphase I of meiosis
 Alleles of different loci are distributed randomly into the
gametes during meiosis
 Law of independent assortment (LoIA) & segregation (LoS): A comparison

LoIA LoS
Number of genes involved

Linked genes involved?

Number of alleles involved

BEGINS in meiotic phase…

Segregation of alleles into

different gametes?
 Law of independent assortment (LoIA)
& Law of segregation (LoS): A comparison

LoIA LoS
Number of genes involved At least 2 1

Linked genes involved? No No

Number of alleles involved At least 4 2

BEGINS in meiotic phase… Metaphase 1 then Anaphase 1

Anaphase 1
Segregation of alleles into Yes Yes
different gametes?
9.6 Geneticists can use the testcross to determine
unknown genotypes
 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
 A testcross is the mating between an individual of
unknown genotype and a homozygous recessive
individual.
 A testcross can show whether the unknown
genotype includes a recessive allele.

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Figure 9.6

What is the genotype of the black dog?

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

Review: Match each term on the left with a statement
on the right
Term Statement
l Gene a. Has no effect on phenotype in a heterozygous

e Allele b. A variant for a character

c. Having two identical alleles for a gene
g Character
d. A cross between individuals heterozygous for a single character
b Trait
e. An alternative version of a gene
j Dominant allele
f. Having two different alleles for a gene
a Recessive allele g. A heritable feature that varies among individuals
k Genotype h. An organism’s appearance or observable traits
h Phenotype i. A cross between an individual with an unknown genotype and a
homozygous recessive individual
c Homozygous
j. Determines phenotype in a heterozygote
f Heterozygous k. The genetic makeup of an individual
i Testcross l. A heritable unit that determines a character; can exist in different
forms
d Monohybrid cross
9.7 Mendel’s laws reflect the rules of probability

 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.

 The probability scale ranges from 0 to 1. An event

that is
– certain to occur has a probability of 1
– certain not to occur has a probability of 0

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9.7 Mendel’s laws reflect the rules of probability

 The probability of a specific event is the number of

ways that event can occur out of the total possible
outcomes.
 Rule of multiplication
─ Multiply the probabilities of events that must occur
together (AND)

 Rule of addition
─ Add probabilities of events that can happen in alternate
ways (OR)

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Figure 9.7

F1 genotypes
Bb female Bb male

Formation Formation
of eggs of sperm

1 1
2 B 2 b
Sperm
1 1
(2  2 )

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

1 b B b b
2 b
1 1
4 4
How to calculate probability

Step 1: Actual genotype of parental gametes

 In the monohybrid cross between two heterozygous
parents, gametes have a 50-50 chance of receiving
either allele (B or b) from each parent. The probability
that a sperm or egg with:
- allele B is ½
- allele b is ½
How to calculate probability

Step 2: Probable genotype of offspring

 Offspring receive one allele from each parent. Three
different combinations of alleles are possible in this
cross. To figure the probability that a child will receive a
particular allele combination, simply multiply the
probabilities of the individual alleles:
- probability of BB: ½ x ½ = ¼
- probability of Bb: ½ x ½ = ¼
- probability of bB: ½ x ½ = ¼ ½

- probability of bb: ½ x ½ = ¼
How to calculate probability

Step 3: Probable phenotypes

The offspring that express the dominant allele B (BB, Bb, bB):
¼+¼+¼=¾
The offspring that express the recessive allele b (bb):
¼
 Probability can solve genetic problems
Example 1
When F1 pea plants are allowed to self-fertilised, the cross
is represented as RrYy x RrYy where R and Y are the
dominant alleles for round and yellow seeds respectively.
What is the probability that an offspring in the F2
generation will have round and yellow seeds (R-Y-) or
wrinkled and green seeds (rryy)?
Solution: Hypothesis: Independent assortment

RRYY rryy
Step 1: Calculate the
individual probabilities of
Gametes RY ry
each phenotype
This can be done using a RrYy

Punnett square
Sperm
- The probability of round and 1
–
4 RY 1
–
4 rY
1
–
4 Ry
1
–
4 ry
yellow seeds = 9/16 1
–
4 RY
RRYY RrYY RRYy RrYy
- The probability of wrinkled
1
and green seeds = 1/16 –
4 rY
RrYY rrYY RrYy rrYy
Eggs
1 9 Yellow
Step 2: Add together the –
4 Ry
RRYy RrYy RRyy Rryy
––
16 round
Green
individual probabilities
3
––
16 round
1
–
4 ry
3 Yellow
RrYy rrYy Rryy rryy ––
16
wrinkled
9/16 + 1/16 = 5/8 Actual results 1
–– Green
(support hypothesis) 16
wrinkled
 Probability can solve genetic problems
Example 2
A person with congenital analgesia can distinguish
between sharp and dull, and hot and cold but extremes of
sensation are not perceived as being painful.
A phenotypically normal couple are heterozygous for the
gene causing congenital analgesia.

a)What is the probability that the couple first 3 children will

have congenital analgesia? [Rule of multiplication]
b)What is the probability that the 1st and 3rd children will be
normal but the 2nd child will have congenital analgesia?
[Rule of multiplication]
 Solution for Example 2
Part (a)
Step 1: Calculate the individual probability of this
phenotype
The probability of an affected child is ¼
Step 2: Multiply the individual probabilities
- ¼ x ¼ x ¼ = 0.016
Part (b)
The probability of a normal child is ¾
The probability of an affected child is ¼
So the probability of this event = ¾ x ¼ x ¾ = 0.14
9.8 CONNECTION: Genetic traits in humans can
be tracked through family pedigrees
 In a simple dominant-recessive inheritance of
dominant allele A and recessive allele a,
– 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).

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Figure 9.8A
Dominant Traits Recessive Traits

 Wild-type traits, those

prevailing in nature, are
not necessarily specified
Freckles No freckles by dominant alleles.

Widow’s peak Straight hairline

Free earlobe Attached earlobe

9.8 CONNECTION: Genetic traits in humans can
be tracked through family pedigrees
 The inheritance of human traits follows Mendel’s
laws.
 A pedigree
– shows the inheritance of a trait in a family through
multiple generations,
– demonstrates dominant or recessive inheritance, and
– can also be used to deduce genotypes of family
members.

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Figure 9.8B

Mode of inheritance: Autosomal Recessive

First generation
(grandparents) Ff Ff ff Ff

Second generation
(parents, aunts,
and uncles) FF ff ff Ff Ff ff
or
Ff
Third generation
(two sisters)
ff FF
or
Female Male Ff
Attached
Free
Pedigree showing inheritance of attached vs. free
earlobe
 Symbols:
– F: dominant allele for free earlobe;
f: recessive allele for attached earlobe
– Square - male; circle - female
– Coloured: affected by the trait under investigation
(attached earlobe)
 By applying Mendel’s laws, we can deduce that one of
the third-generation sisters could have attached earlobe
when both of her parents did not

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9.9 CONNECTION: Many inherited disorders in
humans are controlled by a single gene

 Inherited human disorders show either

1. recessive inheritance in which
– two recessive alleles are needed to show disease,
– heterozygous parents are carriers of the disease-causing
allele, and
– 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.

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Figure 9.9A
Normal Normal
Parents
Dd  Dd
• Each child has ¼
chance of inheriting
two recessive alleles.
• ¼ of the children are D Sperm d
likely to be deaf.
• A normal child has a Dd
⅔ chance of being a DD
D Normal
carrier. Normal
(carrier)
Offspring Eggs
Dd
dd
d Normal
Deaf
(carrier)
 VARIATIONS ON
MENDEL’S LAWS

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9.11 Incomplete dominance results in
intermediate phenotypes
 Mendel’s pea crosses always looked like one of the
parental varieties, called complete dominance.
 For some characters, the appearance of F1 hybrids
falls between the phenotypes of the two parental
varieties. This is called incomplete dominance, in
which
– neither allele is dominant over the other and
– expression of both alleles occurs.

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Figure 9.11A
P generation

Red White
RR rr
Gametes R r

F1 generation
Pink hybrid
Rr

1 1
Gametes
2 R 2 r

F2 generation Sperm
1 1
2 R 2 r

1 R RR rR
2
Eggs
1 r Rr rr
2
9.12 Many genes have more than two alleles in
the population
 Multiple allele
─ More than two alleles are found in the population
─ A diploid individual can carry any two of these
alleles
─ Human ABO blood group phenotypes involve
three alleles for a single gene.
─ The four human blood groups, A, B, AB, and O,
result from combinations of these three alleles.

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9.12 Many genes have more than two alleles in
the population
 Codominance
– 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 (expressed in heterozygous
individuals) is an example of codominance

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9.12 Many genes have more than two alleles in
the population
 The four blood groups result from various combinations of the
three alleles, symbolised as
─ IA (for the enzyme that adds carbohydrate A to red blood cells)
─ IB for B
─ i (for neither A nor B)
 Matching compatible blood group is critical for safe blood
transfusions
─ If a donor’s blood cells have a carbohydrate (A or B) that is
foreign to the recipient, then the recipient’s immune system
produces antibodies that bind specifically to the foreign
carbohydrates and cause the donor blood cells to clump
together
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Figure 9.12

Blood Antibodies Reaction When Blood from Groups Below Is Mixed

Group Carbohydrates Present Present with Antibodies from Groups at Left
(Phenotype) Genotypes on Red Blood Cells in Blood O A B AB

IAIA Carbohydrate A
A or Anti-B
IAi

IBIB Carbohydrate B
B or Anti-A
IBi

Carbohydrate A
AB IAIB and None
Carbohydrate B

Anti-A
O ii Neither
Anti-B

No reaction Clumping reaction

Figure 9.UN05

Genes

located alternative
on versions called

chromosomes (a)

at specific if both are the same, if different, the

locations called the genotype is called genotype is called

(b) (c) heterozygous

the expressed the unexpressed

allele is called allele is called

(d) (e)

inheritance when the phenotype

is in between is called

(f)
Figure 9.UN05

Genes

located alternative
on versions called

chromosomes (a) alleles

at specific if both are the same, if different, the

locations called the genotype is called genotype is called

(b) locus (c)homozygous heterozygous

the expressed the unexpressed

allele is called allele is called

Dominant allele Recessive

(d) (e)
allele
inheritance when the phenotype
is in between is called

Incomplete
(f)
dominance
End of Chapter 1