W7 Population Genetics

Question 1

α-AT (α-1-antitrypsin)

Answer 1

ZZoro genotype increases susceptibility to emphysema and lung cancer

Question 2

Heterozygous advantage

Answer 2

increases reproductive fitness

Question 3

Allele frequency

Answer 3

% of particular allele in gene pool

Question 4

Genotype frequency

Answer 4

% of individuals with a certain genotype

Question 5

Hardy-Weinberg Law

Answer 5

p²+ 2pq + q²

p + q = 1

Question 6

What needs to be given to determine Hardy-Weinberg equilibrium for autosomal recessive diseases?

Answer 6

Disease frequency

incidence = q²

Question 7

Modifier genes

Answer 7

can affect onset and severity of a disease: not causative

ex: ApoE4 homozygoes and Alzheimers

Question 8

I-cell disease

Answer 8

Mannose-6-P not added to hydrolases, not added to lysosomes

Question 9

Genetic mapping

Answer 9

based on phenotypes

following traits in families

Question 10

Linkage analysis

Answer 10

2 loci transmitted together more often than anticipated

the closer two loci are–>less likely to be separated during meiosis

Question 11

Recombination factor (RF)

Answer 11

lower for loci that are physically closer

Question 12

Association analysis

Answer 12

starts with canidate gene

used for complex genetic diseases

Question 13

Calpain-10

Answer 13

intronic SNP that plays role in T2D

glucose uptake and insulin secretion