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Ch02 Slides v03
Ch02 Slides v03
A N A LY S I S
Chapter 2
Transmission Genetics
Mark F. Sanders
John L. Bowman
Overview
Phenotypic ratios are produced in offspring as a result of
chromosome segregation.
In heterozygotes, alleles generally segregate equally into
meiotic products.
Expected progeny ratios can be predicted when genotypes
of parents are known.
Likely parental genotypes can be inferred from phenotypes
of progeny.
In many organisms, sex chromosomes determine sex.
Sex-linked genes can show different phenotypic ratios in
male and female progeny.
Single-gene traits can be studied in pedigrees.
Organelle genes are usually inherited maternally.
What is inherited?
How is it inherited?
What is the role of chance?
Mendels experiments
The garden pea was an ideal organism
vigorous growth
easy to cross or self-fertilize
large number of offspring
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Genetics Analysis: An Integrated Approach
A/ : represents either A or a
Genetics Analysis: An Integrated Approach
Mendelian inference
P1(green) P2(yellow)
F1 (yellow)
F2 (3 yellow : 1 green)
(selfing or intercrossing)
Law of Equal
Segregation:
The Punnett
Square
Meiotic segregation
In meiosis, each of the four haploid products
receives one of each kind of chromosome
A/A homozygotes
A/a heterozygotes
Meiotic chromosomes
segregate equally
2002 byW.
H. Freeman
Company
Copyright
2012
Pearson and
Education
Inc.
Diploid crosses
Three possible diploid genotypes
A/A a/a A/a
Six possible diploid crosses
Cross
A/A A/A
a/a a/a
A/A a/a
A/a A/A
A/a a/a
A/a A/a
Genetics Analysis: An Integrated Approach
Genotypic ratio
A/A
a/a
A/a
1A/A:1A/a
1A/a:1a/a
1A/A:2A/a:1a/a
Phenotypic ratio
all A
all a
all A
all A
1A:1a
3A:1a
Copyright 2012 Pearson Education Inc.
Diploid crosses
Crosses between individuals heterozygous for the
same single gene are called monohybrid crosses
A heterozygote for unexpressed recessive allele is
sometimes called a carrier, particularly in humans
A cross between an unknown genotype (e.g., A/)
and the homozygous recessive genotype (a/a) to
attempt to infer the unknown is called a testcross
Testcross
Distinguishes between A/A and A/a genotypes
mated to a/a based on phenotypes of offspring
if all progeny have dominant phenotype, then unknown
is A/A
if at least one offspring has recessive phenotype, then
unknown is A/a
If:
A/A a/a
A/a
all A
A/a a/a
1A/a:1a/a
1A:1a
Rules of probability
Multiply probabilities of independent events to obtain
probability of joint occurrence
What is the probability that both A and B will occur?
Solution = determine probability of each and multiply
them together.
Add probabilities of mutually exclusive events to obtain
the probability of either one or another event occurrence
What is the probability of A or B occurring?
Solution = determine the probability of each and add
them together.
Law of
Independent
Assortment
315
101
108
32
Why alleles at
different loci
assort
independently
Parental and
recombinant
combinations
Independent assortment
(sometimes called independent segregation)
A/a ; B/b
OR
A;B
A;b
a;B
a;b
Alternatebivalents
bivalants
Alternate
Independent assortment
For genes on different (nonhomologous) pairs of
chromosomes, recombinant frequency is 50%
A/A ; B/B a/a ; b/b
A/a ; B/b
A/a ; B/b
A;B
A;b
a;B
a;b
A;B
50%
A;b
recombinants
a;B
a;b
Dihybrid testcross
Determines genotype of dihybrid by crossing
to homozygous recessive tester
Parental A/A ; b/b a/a ; B/B
F1
testcross
tester gametes
a;b
progeny
proportions
progeny
phenotypes
A ; B
A/a ; B/b
AB
A ; b
A/a ; b/b
Ab
a ; B
a/a ; B/b
aB
a ; b
a/a ; b/b
ab
F1 gametes
1:1:1:1
ratio
Dihybrid testcross
Best way to study recombination is in a
dihybrid testcross
only dihybrid produces recombinant genotypes
all homozygous recessive tester gametes alike
Dihybrid selfing
Equivalent to cross between two A/a ; B/b dihybrids
recombination occurs in both members of cross
recombination frequency is 50%
A;B
A;b
a;B
a;b
A;B
A/A ; B/B
A/A ; B/b
A/a ; B/B
A/a ; B/b
A;b
A/A ; B/b
A/A ; b/b
A/a ; B/b
A/a ; b/b
a;B
A/a ; B/B
A/a ; B/b
a/a ; B/B
a/a ; B/b
a;b
A/a ; B/b
A/a ; b/b
a/a ; B/b
a/a ; b/b
Ratio:
9 A/ ; B/
3 A/ ; b/b
3 a/a ; B/
1 a/a ; b/b
Gene R
Function: Starch branching
enzyme 1
Half of the amount of enzyme is
enough to branch enough starch
to provide enough tension to
keep seed shape round
Mutation: Insertion of an 0.8 kb
transposable element
Genetics Analysis: An Integrated Approach
50% X
50% Y
50% X
XX
XY
50% X
XX
XY
Copyright 2012 Pearson Education Inc.
X-linked inheritance
Male inherits Y from father and X from mother
Female inherits one X from father and one X
from mother
In most mammals, including humans
Y chromosome has very few genes, but one
important gene is SRY (sex determining region of
the Y)
X chromosome has no corresponding loci on Y
Males express all recessive genes on X
chromosome (said to be hemizygous)
Genetics Analysis: An Integrated Approach
X-linked inheritance
Females: 3 possible X-linked genotypes
XAXA
XAXa
XaXa
XaY
Eggs
Gametes
50% XA
50% Xa
Sperm
50% XA
50% Y
XAXA
XAY
XAXa
XaY
Copyright 2012 Pearson Education Inc.
Pedigree analysis
Pedigree analysis
male
Pedigree
symbol
conventions
Learn them!
number of offspring
of indicated sexes
female
affected
sex unspecified
carriers of autosomal
recessive
mating
carrier of sex-linked
recessive
consanguineous mating
death
proband
miscarriage or stillbirth,
sex unspecified
dizygotic twins
monozygotic twins
I
1
II
1
Single-locus MOIs
Autosomal recessive
e.g. PKU, Tay-Sachs, albinism
Autosomal dominant
e.g. Huntington disease
X-linked recessive
e.g. color-blindness, hemophilia
X-linked dominant
e.g. hypophosphatemia
Y-linked
e.g. hairy pinnae
Organellar
Key characteristics:
Affected individuals have at least one affected parent
Two affected parents may produce unaffected children
No sex bias in affected status or allele transmission
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Genetics Analysis: An Integrated Approach
Achondroplasia
Achondroplasia
Key features:
Affected individuals often born to unaffected parents
If both parents are affected, all offspring will be affected
No sex bias in affected status or allele transmission
For rare traits, consanguinity is common
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Genetics Analysis: An Integrated Approach
X-linked Hemophilia
X-linked Hemophilia
Congenital
hypertrichosis
Conclusions:
mode of inheritance:
parents genotypes:
unaffected siblings probability of being carriers:
probability of next offspring being affected:
Conclusions:
mode of inheritance:
parents genotypes:
unaffected siblings probability of being carriers:
probability of next offspring being affected:
Conditional Probability
The conditional probability of an event A is the
probability that the event will occur given the
knowledge that an event B has already occurred.
P(A|B)=P(A and B)/P(B)
If your question is conditioned to a particular
subset of genotypes, you must account for that
when reporting the probability
Conditional Probability
In the cross of Yy x Yy pea plants, what is the
probability of an offspring being homozygous
dominant (YY) given that it is yellow?
Conditional Probability
In the cross of Yy x Yy pea plants, what is the
probability of an offspring being homozygous
dominant (YY) given that it is yellow?
Conditional Probability
In the cross of Yy x Yy pea plants, what is the
probability of an offspring being homozygous
dominant (YY) given that it is yellow?
Problem 1
Problem 1
Problem 1
Problem 1
Problem 1
Problem 2
This pedigree is for a mild and rare hereditary
disorder of the skin
Consider the parents
III-4 and III-5. What
was the probability of
having four
unaffected children
before they actually
had them?
Problem 2
This pedigree is for a mild and rare hereditary
disorder of the skin
Consider the parents
III-4 and III-5. What
was the probability of
having four
unaffected children
before they actually
had them?
D+D D+D+
Problem 2
This pedigree is for a mild and rare hereditary
disorder of the skin
Consider the parents
III-4 and III-5. What
was the probability of
having four
unaffected children
before they actually
had them?
D+D D+D+
Assuming autosomal
dominant...
D+D+ D+D+ D+D+ D+D+
Problem 3
What is the mode of inheritance of
this rare trait?
Problem 3
What is the mode of inheritance of
this rare trait?
Autosomal dominant
Genetics Analysis: An Integrated Approach
Problem 4
What is the probability of obtaining the genotype
A/-; B/-; C/-; D/- in the offspring of this cross?
P1 A/a ; B/b ; C/c ; D/d P2 a/a ; B/b ; C/c ; D/D
2 x 2 x 2 x 2 = 16
1x2x2x1=4
2 x 3 x 3 x 2 = 36
2x2x2x1=8
Frequency of
x x x 1 = 9/32
A/ ; B/ ; C/ ; D/
Genetics Analysis: An Integrated Approach
# observed
310
295
305
290
Problem 5
Consider a hypothetical mating between two browneyed individuals heterozygous for the recessive
blue-eye allele (Bb). If the pair has five offspring,
what is the probability that two of them will have blue
eyes?
(n)!
i ni
Pi
pq
i!(n i)!
n = total number of events (e.g. total # of offspring)
i = number of events in one category (e.g. # affected)
p = individual probability of event I (e.g. 0.25)
probability of the other category (= 1I = 0.75)
q = individual
Bd x Bd
3 B_: 1 bb
n = total number of events = 5
i = number of events in one category = 2 (blue eyes)
p = individual probability of event I = 0.25
q = individual probability of the other category = 0.75
Binomial expansion equation
(n)!
(5)!
i ni
2
52
Pi
pq
0.25 0.75 0.26
i!(n i)!
2!(5 2)!
Genetics Analysis: An Integrated Approach
Binomial Probability
Some questions involve predicting the likelihood of
a series of events (for which there are two
outcomes each time)
We use binomial probability calculations to
answer this type of question
It expands the binomial expression to reflect the
number of outcome combinations and the
probability of each
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Degrees of Freedom
The relationship between P value and 2 values for an
experiment depends upon the number of degrees of
freedom (df) i.e. the number of independent
variables
The df value is the number of mutually exclusive
outcome classes, n, minus 1;
The chi-square table includes values for different
degrees of freedom and the corresponding P values
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Statistical Significance
A statistically significant result from 2 analysis is one
for which the P value is less than 0.05
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