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
 Genes
 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
 Tracking Generations
 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 x aa).
Usually they are homozygous dominant
and homozygous recessive. One trait
(two alleles).
 Mendel’s
Monohybrid
5,474 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 651 long 207 at tip
that averaged 3:1 stem

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
 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
 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 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 3/16 white-flowered, tall

1/16
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
 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

 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
Dominance parent

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 (IA and IB) are codominant

when paired

 Third allele (i) is recessive to others

 ABO Blood Type:
Allele Combinations

Range of genotypes:

IA IA IB I B

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
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
 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
enzyme in 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