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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