Genetic Risk Analysis

Question 1

_________ statements are additive while __________ statements are multiplicative

Answer 1

OR (additive), AND (multiplicative)

Question 2

In Hardy-Weinberg law __________ = frequency of reference allele and _________ = frequency of variant allele

Answer 2

p (reference allele)
q (variant allele)

Question 3

What is the Hardy-Weinberg law equation

Answer 3

p^2 + 2pq + q^2
p^2 = homozygous reference allele
2pq = heterozygous
q^2 = homozygous variant allele

Question 4

The Hardy-Weinberg law equation assumes there are only _________ alleles

Answer 4

Two (p and q) where p + q =1
genes in equilibrium

Question 5

Bayes analysis can help calculate:
1. Reduced ______
2. Variable _______
3. New _______/__________
4. Pedigree info increasing or decreasing ________

Answer 5

1. Penetrance
2. Expressivity
3. Mutations/mosaicism
4. Risk

Question 6

Bayes calculations allow one to modify _______ based on additional
information not directly Mendelian

Answer 6

risk

Question 7

Give the 4 level of working through a Bayesian analysis:

Answer 7

1. Prior probability
2. Conditional probability
3. Joint probability
4. Posterior probability

Question 8

The possibility of a de novo mutation is given my mu which is = ________?

Answer 8

10^-6

Question 9

Possibility of a person being a carrier given carrier parents and affected sibling

Answer 9

2/3

Question 10

Chance of de novo mutation in boy with X-linked recessive condition and no prior family history

Answer 10

1/3

Question 11

Affected boy, what is the chance that mother is a carrier

Answer 11

2u (1/4 + 1/2 ….) = 4u

Question 12

What is the risk of being an AR carrier if the parent has a 2/3 chance of being a carrier?

Answer 12

1/3

Question 13

The recessive allelic frequency for twice as many recessive homozygotes as heterozygotes

Answer 13

q = 0.8
q^2 = 0.64
2pq = 20.80.2 = 0.32