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
