Observable Patterns of

Inheritance
Chapter 11
 Earlobe Variation

Whether a person has attached or
detached earlobes depends on a single
gene

Attached earlobes: two copies of the
recessive allele for this gene

Detached earlobes: either one or two
copies of the dominant allele
 Early Ideas about Heredity

People knew that sperm and eggs
transmitted information about traits

Blending theory

Problem:

Would expect variation to disappear

Variation in traits persists
 Gregor Mendel

Strong background
in plant breeding and
mathematics

Using pea plants,
found indirect but
observable evidence
of how parents
transmit genes to
offspring
 Comments: Gene

Mendel never used the term, gene
gene,,
although he clearly made a distinction
between, genotypes and phenotypes.

The term, gene, was coined by Wilhelm
Johannsen (1909) based on the term,
Pangenisis which Hugo de Vries (1889)
used to describe Mendel’s concept of
inherited units that determine phenotypes.
 Genes(Stopped here)

Units of information about specific traits

Passed from parents to offspring

Each has a specific location (locus) on a

chromosome
 Alleles

Different molecular forms of a gene

Arise by mutation

Dominant allele masks a recessive
allele that is paired with it
 Allele Combinations

Homozygous

having two identical alleles at a locus

AA or aa

Heterozygous

having two different alleles at a locus

Aa
 Genetic Terms
A pair of homologous
chromosomes

Figure 11.4
Page 179
A gene locus

A pair of alleles

Three pairs of genes

Figure 11.4
Page 179
 Question 1
1. An early idea about inheritance was the
“blending theory”. What was it and why
was it deficient?
 Answer 1
1. An early idea about inheritance was the
“blending theory”. What was it and why
was it deficient?

Traits from the male and female were

blended in the offspring.
If this were truth, then eventually, all
individuality would disappear.
 Question 2

2. What does the term “locus” mean?
 Answer 2

2. What does the term “locus” mean?

This is the location of a gene (which

chromosome and where on the
chromosome). Its “address”.
 Question 3

3. What are alleles?
 Answer 3

3. What are alleles?

These different molecular forms of the

same gene.
 Question 4

4. If two genes are “homologous”, what
does that mean?
 Answer 4

4. If two genes are “homologous”, what
does that mean?

Homologous means “the same.” They are

identical.
 Question 5

5. What does “heterozygous” mean?
 Answer 5

5. What does “heterozygous” mean?

Heterozygous means" different”.

Heterozygous for attached earlobes would
mean that the individual carries a normal
gene and a mutant gene.
 Question 6

6. If Sally is homozygous dominate for
gene A, how would you write that in
standard symbolic form? If she were
heterozygous for A? If she were
homozygous for the recessive form of A?
 Answer 6

6. If Sally were (a) homozygous dominate
for gene A, how would you write that in
standard symbolic form? (b) If she were
heterozygous for A? (c) If she were
homozygous for the recessive form of A?

AA, Aa, aa
 Genotype & Phenotype

Genotype refers to particular genes an
individual carries

Phenotype refers to an individual’s

observable traits

Cannot always determine genotype by

observing phenotype
Parental generation
P

mates to produce

First-generation offspring
F1
mate to produce

Second-generation offspring
F2
 Monohybrid Crosses
Experimental intercross between
two F1 heterozygotes

AA X aa Aa (F1 monohybrids)
Aa X Aa ?
 Question 7

7. Define phenotype.
 Answer 7

7. Define phenotype.

Phenotype refers to an individual’s

observable traits
 Question 8

8. Define genotype.
 Answer 8

8. Define genotype.

Genotype refers to particular genes an

individual carries
 Question 9

9. How do you represent the first
generation of a cross?
 Answer 9

9. How do you represent the first
generation of a cross? Parental cross?
Second generation?

F1; P; F2
 Question 10

10. What is monohybrid cross (how many
traits are being investigated)?
 Answer 10

10. What is monohybrid cross (how many
traits are being investigated)?

It is a cross where two true breeding

individuals are mated (AA
(AA x aa).
aa). Usually
they are homozygous dominant and
homozygous recessive. One trait (two
alleles).
 Mendel’s
Monohybrid5,474 round 1,850 wrinkled

6,022 yellow 2,001 green

Cross Results
882 inflated 299 wrinkled

428 green 152 yellow

F2 plants showed 705 purple 224 white

dominant-to-
recessive ratio that
651 long stem 207 at tip
averaged 3:1

787 tall 277 dwarf

Figure 11.5
Page 180
 Probability
The chance that each outcome of a given
event will occur is proportional to the
number of ways that event can be reached
 Monohybrid True-breeding
homozygous recessive
parent plant
F1
PHENOTYPES

Cross aa

Illustrated True-breeding
homozygous dominant
parent plant a a
Aa Aa

A Aa Aa
AA
A Aa Aa Aa Aa

An F1 plant
self-fertilizes F2
and produces PHENOTYPES
gametes:
Aa

AA Aa
A a

A AA Aa

a Aa aa Aa aa
Figure 11.7
Page 181
 Monohybrid Cross #1

Long hair is dominant to short hair in
guinea pigs. Show the results of a cross
between a homozygous short haired male
and a pure long haired female.
 Monohybrid Cross #1

What do we know?

Both parents are homologous.

Short haired male hh

Long haired female HH (“H” gene is
dominant)

hh x HH

Draw the Punnett Square
 #1 Punnett Square

hh x HH Meiosis
2n -> n

H H Ova

h Hh Hh

zygotes
h Hh Hh

sperm

All of the F1’s are hybrids, or heterogenous and they are long haired.
 Monohybrid #2

What is the probability that a cross
between two guinea pigs both
heterogeneous for long would produce a
short haired guinea pig?
 Monohybrid #2

Hh x Hh

Draw the Punnett square
H h

Complete the problem (p = ¼ or 25%)

 Monohybrid #3

In Holstein cattle the spotting of the coat is
due to a recessive allele while the solid
colored coat is controlled by a dominant
allele. What types of offspring might be
produced by a cross between two spotted
animals?
 Monohybrid #3

Cross: spotted cow x spotted cow

Cross: ss x ss

(where S = solid and s = spotted)

Is it possible to have a solid calf?

 Monohybrid #4

In lemurs brown eyes are dominant over
blue eyes. If a heterozygous brown eyed
female mates with a blue eyed male, what
would be the expected genotypic and
phenotypic ratios of their offspring?
 Monohybrid #4

Cross: Brown eyed heterozygous female
and a blue eyed male (homozygous)

B = brown and b = blue

Bb x bb = 2 Bb and 2 bb

Genotypic ratio

Bb:bb 1:1

Phenotypic ratio

Brown: blue 1:1
 Monohybrid Problem Set

Form cooperative groups of 2 to 4 and

Solve the problems in the Monohybrid
Problem Set.

We’ll check the answers in class.
 Mendel’s Theory
of Segregation

An individual inherits a unit of information

(allele) about a trait from each parent

During gamete formation, the alleles

segregate from each other
 Test Cross

Individual that shows dominant phenotype
is crossed with individual with recessive
phenotype

Examining offspring allows you to

determine the genotype of the dominant
individual

BB or Bb ?
Both brown
phenotypes
 Punnett Squares of
Test Crosses
Homozygous Homozygous
recessive recessive
a a a a

A Aa Aa A Aa Aa

a aa aa A Aa Aa
Two phenotypes 1:1 All dominant phenotype
 Dihybrid Cross

Experimental cross between individuals

that are homozygous for different
versions of two traits
 Dihybrid Cross: F1 Results
purple white
TRUE- flowers,
BREEDING flowers,
tall dwarf
PARENTS:

AABB x aabb

GAMETES: AB AB ab ab

AaBb

F1 HYBRID
OFFSPRING:
All purple-flowered, tall

Figure 11.9 (1)

Page 183
 Dihybrid Cross: F2 Results

AaBb X AaBb

1/4 AB 1/4 Ab 1/4 aB 1/4 ab

9/16 purple-flowered, tall
1/4 AB 1/16 1/16 1/16 1/16
AABB AABb AaBB AaBb 3/16 purple-flowered, dwarf

1/4 Ab 1/16 1/16 1/16 1/16 3/16 white-flowered, tall

AABb AAbb AaBb Aabb
1/16 white-flowered, dwarf

1/4 aB 1/16 1/16 1/16 1/16

AaBB AaBb aaBB aaBb

1/16 1/16 1/16 1/16

1/4 ab AaBb Aabb aaBb aabb
Figure 11.9(2)
Page 183
 Dihybrid Problem #1

A person is heterozygous for tongue-
tongue-
rolling and homozygous recessive for
freckles. This person marries an individual
who is heterozygous for both tongue-
tongue-
rolling and freckles. Show all the possible
genotypes for their children.

Tongue roller – Dominant and NonNon--tongue
roller Recessive

Freckles
Freckles-- Dominant and No Freckles
Recessive
 Dihybrid Problem #1

(Tongue roller – no-
no-freckles) x (Tongue
roller- freckles)
roller-

T = tongue rolling dominant

tt = non-
non-tongue rolling

F = freckles dominant ff = no freckles

Ttff x TtFf (the cross)

Ttff produces Tf and tf gametes

TtFf produces TF,
TF, Tf
Tf,, tF,
tF, and tf gametes
 Dihybrid Problem #1

Ttff x TtFf (symbolizes the cross)
Ova
TF Tf tF tf

TTFf TTff TtfF Ttff

Tf
zygotes
TtFf Ttff ttFf ttff
tf

sperm
 Dihybrid Problem #1

Ttff x TtFf (symbolizes the cross)
Ova
TF Tf tF tf

TTFf TTff TtfF Ttff

Tf
zygotes
TtFf Ttff ttFf ttff
tf

sperm Roller- Roller- Non- Non-

frecked no roller roller
freckles freckles No
freckles
Phenotypic ratios: 3:3:1:1
 Question 11

11. Describe or define: dihybrid cross”.

11. Describe or define: dihybrid cross”.
Experimental cross between individuals
that are homozygous for different
versions of two traits
Example:
AABB x aabb
 Independent Assortment

Mendel concluded that the two “units” for
the first trait were to be assorted into
gametes independently of the two “units”
for the other trait

Members of each pair of homologous

chromosomes are sorted into gametes at
random during meiosis
 Independent Assortment

Metaphase I:
A A a a
OR A A a a

B B b b b b B B

Metaphase II:
A A a a A A a a

B B b b b b B B

B B b b b b B B
Gametes: A A a a A A a a

1/4 AB 1/4 ab 1/4 Ab 1/4 aB

 Dihybrid Problem Set

Form cooperative groups of 2 to 4 and

Solve the problems in the Dihybrid
Problem Set.

We’ll check the answers in class.
 Tremendous Variation
Number of genotypes possible in
offspring as a result of independent
assortment and hybrid crossing is
2n
(n is the number of gene loci
at which the parents differ)
 Impact of Mendel’s Work

Mendel presented his results in 1865

Paper received little notice

Mendel discontinued his experiments in
1871

Paper rediscovered in 1900
Dominance Relations

Complete dominance
Incomplete dominance
Codominance
Incomplete
Dominance Incomplete
Homozygous
X
Homozygous
parent parent
Dominance
All F1 are
heterozygous

Figure 11.10
Page 184 F2 shows three phenotypes in 1:2:1 ratio
 Codominance: ABO Blood
Types

Gene that controls ABO type codes for
enzyme that dictates structure of a
glycolipid on blood cells

Two alleles (I
(IA and IB) are codominant
when paired

Third allele (i(i) is recessive to others

 ABO Blood Type:
Allele Combinations

Range of genotypes:

IA IA IB IB

or or

IA i IA IB IB i ii

Blood A AB B O
types:

Figure 11.11
Page 184
 ABO and Transfusions

Recipient’s immune system will attack
blood cells that have an unfamiliar
glycolipid on surface

Type O is universal donor because it has
neither type A nor type B glycolipid
 Question 12.

12. What three types of dominance?
 Question 12. What three types of
dominance?

12. What three types of dominance?

Complete dominance
Incomplete dominance
Codominance
 Pleiotropy

Alleles at a single locus may have effects
on two or more traits

Marfan syndrome - Mutation in gene for

fibrillin affects skeleton, cardiovascular
system, lungs, eyes, and skin
Marfan Syndrome
 Epistasis

Interaction between the products of gene

pairs

Common among genes for hair color in

mammals
 Coat Color
in
BBEE X bbee
Retrievers
F1 puppies
are all BbEe

F2 puppies
BE Be bE be

BE BBEE BBEe BbEE BbEe black

Be BBEe BBee BbEe Bbee

brown
bE BbEE BbEe bbEE bbEe

Figure 11.13 yellow

be BbEe Bbee bbEe bbee
Page 186
 Comb Shape in Poultry

RRpp rrPP
P: (rose comb) X (pea comb)

F1: RrPp (all walnut comb)

F2:
9/16 walnut 3/16 rose 3/16 pea 1/16 single
RRPP RRpp rrPP rrpp
RRPp Rrpp rrPp
RrPP
RrPp

Figure 11.15
Page 187
 Comb Shape in Poultry

Rose
Pea
RRpp
rrP_
R_pp
3/16
3/16

Single Walnut
Rrpp R_P_
1/16 9/16

Is the ratio, 9:3:3:1 consistent with a dihybrid cross?

Walnut Comb

http://www.longtail-fowl.com/images/sketches/minohiki_
 Campodactyly:
Unexpected Phenotypes

Effect of allele varies:

Bent fingers on both hands

Bent fingers on one hand

No effect

Many factors affect gene expression

 Continuous Variation

A more or less continuous range of small
differences in a given trait among
individuals

The greater the number of genes and
environmental factors that affect a trait, the
more continuous the variation in versions
of that trait
 Human Variation

Some human traits occur as a few discrete
types

Attached or detached earlobes

Many genetic disorders

Other traits show continuous variation

Height

Weight

Eye color

IQ
 Polygenic Inheritance

Suppose height in humans is controlled by
three sets of genes each on a different
chromosome (independently assorted).
Assume that each dominant allele
contributes “1 unit of height” and a
recessive allele produces only “½ unit of
height”.

Two average heigth parents have the
genotypes:

AaBbCc x AaBbCc
 Polygenic Inheritance

Each parent can produce 8 gametic gene
combinations:

ABC, ABc,
ABc, AbC
AbC,, aBC
aBC,, Abc
Abc,, aBc
aBc,, abC
abC,, abc

What size Punnett Square would we
need?
 ABC
AB
c Ab aB ab aB A ab
C C C c bc c

AAB AABB AABb AaBB AaBb AaBB AABb AaBb

ABC BCC Cc CC CC CC Cc Cc Cc

AABB AABB AABb AaBB AaBb AaBB AABb AaBb

ABc Cc cc Cc Cc Cc cc cc cc

AABb AABb AAbb AaBbC AabbC AaBb AAbb Aabb

C
AbC CC Cc CC C Cc Cc Cc

AaBB
AaBB AaBb aaBB aaBb aaBB AaBb aaBb
Cc CC
CC CC CC Cc Cc Cc
aBC
AaBb Aabb aaBb
AaBb aabb aaBb AaBb aabb
Cc CC CC
CC CC Cc cc Cc
abC
AaBB AaBB AaBb aaBB aaBb aaBB AaBb aaBbc
Cc cc Cc Cc Cc cc cc c
aBc
AABb AABb AAbb AaBb Aabb AaBb AAbb Aabb
Cc cc Cc Cc Cc cc cc cc
Abc
AaBb AaBb Aabb aaBb aabb aaBbc Aabb aabbcc
Cc cc Cc Cc Cc c cc
`abc
6 units

5.5
units Polygenic inheritance
produces a more or less
continuous distribution of
5 units
phenotypes. The more genes
involved, the smoother the
distribution.
4.5 Parents
units AaBbCc
4.5 units each
4 units

3.5 Roughly bell shaped

units

3 units
 Describing Continuous Variation

Number of individuals with

(line of bell-shaped curve indicates
Number of individuals with

some value of the trait

continuous variation in population)
some value of the trait

Range of values for the trait Range of values for the trait
 Question 13.
13. Define pleiotrophy.
 Question 13

13. Define pleiotrophy.

Alleles at a single locus may have

effects on two or more traits

Examples: Marfan’s syndrome and
Sickle Cell Anemia
 Temperature Effects
on Phenotype

Rabbit is homozygous for

an allele that specifies a
heat--sensitive version of an
heat
enzyme in melanin-
melanin-
producing pathway

Melanin is produced in
cooler areas of body
Figure 11.18
Page 190
Environmental Effects on Plant
Phenotype

Hydrangea macrophylla

Action of gene responsible for floral
color is influenced by soil acidity

Flower color ranges from pink to blue