Study Guide First Exam Spring 2011

Exam: transmission genetics and population genetics problem solving (2/3)

factual material from powerpoints and journal article readings (1/3)

Transmission genetics and population genetics problem solving

Identify the mode of transmission of genetic diseases (dom or rec, aut or sex-linked)

Pedigree Problem, what kind of disorder, what are the genotypes, what is the chance the
child has the disorder

Know how transposons are used to find a gene underlying a particular phenotype
(Finding the R gene)

Be able to solve transmission genetics problems

One and Two locus crosses, F2 genotypes, genetic basis of phenotype
Epistasis
Complementation

Be able to perform a Chi-Square Test

Be able to calculate allele and genotype frequencies using Hardy-Weinberg

Be able to perform calculations for the effect of natural selection of genotype and allele
frequencies

Be able to illustrate the different causes of evolution

Be able to use the chi-square test

Be able to solve a multi-locus problem

Factual Material from Powerpoints and Journal Article Reading

Meiosis
Benefits of sex
Stem cell therapy, gene therapy
Causes of evolution and maintenance of variation

1) Consider a rare, recessive, autosomal disorder. Let the fitness of individuals with the
disorder = 0.1, and their frequency = .01 (1% of the population).

a) what is the frequency of the disorder allele, a? aa = .01 = q2 , q = 0.1

b) what is the frequency of the dominant allele, A? p+q = 1, p= 0.9

 c) what will the frequency of the disorder allele be after a generation of selection?

q (t+1) = (½ (2pq*w12) + q2*w22)/p2*w11 + 2pq*w12 + q2*w22) = 0.092

d) what will the frequency of the disorder allele be at equilibrium? 0

e) what is the frequency of carriers of the disorder at equilibrium? 0

f) Now, assume the disorder allele is dominant. What is its frequency at

equilibrium? Zero. Will it take more or less time to reach equilibrium than if it
recessive? Less time– the disorder allele can’t “hide” in the heterozygote when
the disorder is dominant

2) Two fruit flies with wrinkled wings had 100 progeny with wrinkled wings and 50
progeny with normal wings. Provide a genetic explanation for this result.

The wrinkled flies are heterozygotes for one gene, and the homozygote recessive
genotype is lethal

3) Two normal-looking fruit flies had 100 female progeny and 50 male progeny. Provide
a genetic explanation for this result.

The female parent is heterozygotes for an X-linked gene. Half her sons get a good X
from mom, the other half a bad X and these sons die.

4) Charlie’s sister has a rare, recessive autosomal disease. Cindy’s father has the same
disease. They want to have a child. What is the chance the child will be affected by the
disease? 1/6

5) Cindy’s uncle has a rare, recessive autosomal disorder. She wants to marry her uncle’s
son. What is the chance their child has the disorder? 1/12

6) Consider this cross:

Aa bb cc dd ee x Aa Bb cc dd Ee

a) what proportion of progeny have the same genotype as the first parent? 1/8
b) what proportion of have the same phenotype as the second parent? 3/16
c) what proportion of progeny are homozygotes?1/8
7) Consider a population of 100 individuals. p=0.2 and q=0.8

a) Under the null hypothesis of no evolution, Hardy-Weinberg equilibrium, what

is the expected frequency of homozygote recessives? q2= 0.64
b) what is the expected number of homozygote recessives? 0.64 x 100 = 64
c) assume I observed 14 homozygote dominants, 12 heterozygotes, and 74
heterozygotes. Use a Chi-Square test to determine if this population is in
Hardy-Weinberg equilibrium?

Expect Obs. (Obs.-Exp)2/Exp

AA 4 14 25
Aa 32 12 12.5
aa 64 74 1.56

Chi-Sq. = 39.06
Df = 2
Probabilty this population is not evolving <0.0001…it is evolving

A way to focus your study around a basic concept than runs through this material,
Variation.

Variation (ie. Allelic variation, there is both A and a)

I. Sources of Variation? Mutation, Migration, Meiosis (you unpack this)

II. Benefits of Sex? (see powerpoint slide)
III. How does variation work, what is its purpose? Syllogism of evolution by
natural selection:
a. 1) there is heritable variation in populations
b. 2) resources are limited, resulting in a competition over resources
c. Therefore, the variants best able to acquire resources win the competition,
and pass their genes to the next generation, resulting in Evolution by
Natural Selection
IV. The null hypothesis is H-W equilibrium, no evolution, such that genotype
frequencies come directly from allele frequencies.
V. What are the causes of evolution? Mutation, Migration, Drift, Assortative
Mating, Natural Selection
VI. How do these causes affect H-W equilibrium? All tend to reduce the amount
of allelic variation (especially natural selection) except mutation and
migration. But these don’t bring new alleles into a population as fast as
natural selection removes them. Thus, we expect to see little allelic variation
in populations.
 VII. Yet, there is a great amount of allelic variation Observed in populations, for
example, in 1968 Lewontin and Hubby measured the number of alleles at a
buttefly gene, esterase, and found a great amount of allelic variation, more
than expected..
VIII. What explains the difference between the Expected amount of variation and
the observed amount?
a. Neutral Theory: Genotypes rarely vary much in their fitnesses
b. Heterozygote advantage: Usually the Aa genotype is most fit
c. Fluctuating Environment: The fitness of a genotype varies over time, or
among different places in the environment.
d. Frequency-dependent selection

A few more problems, some with answers, below:

1) I performed a cross between two plants. I think one is a heterozygote and the other is
a homozygote. I obtained the following F2 progeny:

117 Brown
99 Blue

Perform a Chi-Sq. test and tell me if I’m correct.

I tested a 1:1 ratio (Aa x aa -> 50% Aa and 50% aa progeny). But tests of 9:7 and 3:1
were accepted.

Expected Brown: 108

Expected Blue: 108
Chi-Sq: (108-117)2/108 + (108-99)2/108 = 1.5

Df = 1
p = about .15
the null hypothesis is accepted, I am correct that one is a heterozygote and the second a
homozygote.

COMPLEMENTATION PROBLEMS
1)
1 2 3 4 5
1 w + + + w

2 w + + ?

3 w w ?

4 w ?
5 ?

To Get you Started:

Same
1 and 5
3 and 4

Different
1 and 2
1 and 3
1 and 4
2 and 3
2 and 4

What symbol, w or +, is each “?”

How many genes did I discover?

2)
1 2 3 4 5 6 7
1 w + w + w + +

2 w + + + + +

3 w ? ? ? ?

4 w ? w +

5 w ? ?

6 w ?

7 w

3)

1 2 3 4 5 6 7
1 w w + w + w +
2 w + w + w +
3 w + w + +
4 w + w +
5 w + +
6 w +
7 w

w=mutant phenotype, + = wildtype (normal) phenotype

 a) complete this chart, which shows the results of a complementation experiment
b) how many different genes were discovered? 3

EPISTASIS PROBLEMS
All P generation plants are homozygotes
1)
P F1 F2
Blue x White Blue 241Blue 60Magenta 20White

Blue x White Blue 90Blue 30White

Magenta x White Magenta 90Magenta 31White

2)
P F1 F2
Blue x White Blue 91Blue 31Magenta 39White

Blue x White Blue 90Blue 30White

Magenta x White Blue 90Blue 31Magenta 40White

Population Genetics
1) Consider a rare, recessive, autosomal disorder. Let the fitness of individuals with the
disorder = 0.4, and their frequency = .01 (1% of the population).

b) what is the frequency of the disorder allele, a? .1

c) what will the frequency of the disorder allele be after a generation of selection? .
09456

d) what will the frequency of the disorder allele be at equilibrium? 0

e) what is the frequency of carriers of the disorder at equilibrium? 0

Transmission Genetics Problem

1) Charlie’s grandmother has a rare, recessive autosomal disease. Cindy’s uncle has the
same disease. Cindy and Charlie want to have children. If Charlie and Cindy have a
child, what is the chance the child will be affected by the disease? 1/24

Multilocus Problem
Consider this cross:

Aa bb cc dd ee x aa Bb Cc dd Ee

d) how many progeny have the same genotype as the first parent? 1/16

e) how many progeny have the same phenotype as the first parent? 1/16

Provide the genotypes for these F2 phenotypes generated using Mendel’s strategy.
a) b) c)
9 Tall and Brown 123 Blue 20 Purple
3 Tall and Black 31 Magenta 10 Red
3 Short and Brown 9 White 11 Blue
1 Short and Black

Provide the genotypes for the P1 and F1 flowers in this cross. All P1 flowers are
homozygous.

P1 F1 F2
Blue x White White 31White:12Blue

Blue x White Blue 31Blue:9White

Blue x White Blue 130Blue:28White

White x White White White

Blue x Blue Blue Blue

Consider a rare, recessive, autosomal disorder. Let the fitness of individuals with the
disorder = 0.1, and their frequency = .01 (1% of the population).

f) what is the frequency of the disorder allele, a?

b) what is the frequency of the dominant allele, A?

g) what will the frequency of the disorder allele be after a generation of selection?

h) what will the frequency of the disorder allele be at equilibrium?

i) what is the frequency of carriers of the disorder at equilibrium?

j) Now, assume the disorder allele is dominant. What is its frequency at

equilibrium? Will it take more or less time to reach eq. Than if recessive?

Two fruit flies with wrinkled wings had 100 progeny with wrinkled wings and 50
progeny with normal wings. Provide a genetic explanation for this result.

Charlie’s sister has a rare, recessive autosomal disease. Cindy’s uncle’s father has the
same disease. They want to have a child. What is the chance the child will be affected
by the disease?
 1 2 3 4 5 6 7
1 w + + + + + +
2 w w w w + +
3 w
4 w
5 w
6 w +
7 w

w=mutant phenotype, + = wildtype (normal) phenotype

c) complete this chart, which shows the results of a complementation experiment

d) how many different genes were discovered?

Consider this cross:

aa bb cc dd ee x aa Bb cc dd Ee

f) how many progeny have the same genotype as the first parent?

g) how many progeny have the same phenotype as the second parent?

h) how many progeny are homozygotes?