Genetics of Common Diseases II

Question 1

linkage disequilibrium

Answer 1

the nonrandom association between alleles at different loci.

it is created by drift, selection and recombiation.

Question 2

loci that are physically _ together exhibit stronger LD than loci that are farther apart on a chromosome.

Answer 2

closer

Question 3

first successful GWA study

Answer 3

age - related macular degeneration

Question 4

key feature of AMD

Answer 4

formation of extracellular deposits called drusen concentrated in and around the macula.

Question 5

odds ratio

Answer 5

a comparison of the odds that individuals who share a particular factor will have a disease or trait versus the odds for individuals who lack the factor.

Question 6

relative risk

Answer 6

a comparison of the risk for a disease in individuals who share a particular factor will have a disease or trait versus the risk among for individuals who lack the factor.

Question 7

GWA and IBD

Answer 7

the genetic risk loci for IBD identified only explain a small part of the genetic variance in disease risk.

Question 8

if a gene product is so deficient or dysfunctional that it causes a severe phenotype

Answer 8

disease is generally rare
will nearly always have an early onset
difficult to treat or even manage

Question 9

if an altered gene product can still carry out its functions, the resulting disease will be more _

Answer 9

frequent.

the disease will also have a later onset and will be more amenable to treatment.

Question 10

• General rule: rare variants in _, common variants in _.

Answer 10

• General rule: rare variants in protein coding, common variants in regulatory sequences