Observable Patterns of

Inheritance
 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,
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
 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
 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 ?
 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 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
 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
 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-rolling and
homozygous recessive for freckles. This person
marries an individual who is heterozygous for
both tongue-rolling and freckles. Show all the
possible genotypes for their children.
 Tongue roller – Dominant and Non-tongue roller
Recessive
 Freckles- Dominant and No Freckles Recessive
 Dihybrid Problem #1
 (Tongue roller – no-freckles) x (Tongue roller-
freckles)
 T = tongue rolling dominant
 tt = 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, 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
 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
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:

I A IA IB IB

or or

IA i I A 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
 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
 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
 What size Punnett Square would we
need?
 AB
ABC
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 aaBBC
AaBB AaBb aaBb aaBB AaBb aaBb
Cc C
CC CC CC Cc Cc Cc
aBC
AaBb Aabb aaBb
AaBb aabbC aaBb AaBb aabbC
Cc CC CC
CC C Cc cc c
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 Aabbc
Cc cc Cc Cc Cc cc cc c
Abc
AaBb AaBb Aabb aaBb aabbC aaBbc Aabbc aabbcc
Cc cc Cc Cc c c c
`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
 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