Module 8

Question 1

Digenic diallelic inheritance

Answer 1

mutations in 2 genes are not linked. pattern like autosomal dominant

Question 2

polygenic traits

Answer 2

result of action of more than one gene

Question 3

multifactorial traits

Answer 3

result of genetic and environmental factors. runs in family and severity increases risk

Question 4

QTL quantitative traits

Answer 4

polygenic and vary, display continuous variation in population (height/weight)

Question 5

additive model

Answer 5

bell shaped curve

Question 6

threshold model

Answer 6

traits vary in a population. the more factors one has crosses a threshold into an affected phenotype

Question 7

empiric risk

Answer 7

statistic based on observation alone

Question 8

incidence

Answer 8

rate in which an event occurs in a population

Question 9

prevalence

Answer 9

proportion of individuals in a population with a disorder at a specific time

Question 10

heritability

Answer 10

degree of variation in a trait from genetic factors

Question 11

coefficient of relatedness

Answer 11

primary vs secondary relatives

Question 12

concordance

Answer 12

if one twin has a trait, how often does the second twin have the same trait

Question 13

discrete multifactorial trait

Answer 13

either you have it or you don’t

Question 14

conditional/inducible traits

Answer 14

traits that manifest in external conditions

Question 15

pharmacogenetic disease

Answer 15

response to pharmaceutical agent

Question 16

prions

Answer 16

mutant misfolded proteins

Question 17

GWAS

Answer 17

genome wide associated studies maps multifactorial diseases

Question 18

marker types

Answer 18

SNP, CNV, gene expression

Question 19

linkage disequilibrium

Answer 19

not independent, inherited in blocks

Question 20

haplotype block

Answer 20

region of the genome containing SNPs inherited together

Question 21

recombination hotspots

Answer 21

recombination that occurs at non-random spots

Question 22

tag SNP

Answer 22

single SNP provides info for a block

Question 23

hapmap project

Answer 23

map of common SNPs in the genome for complex diseases

Question 24

risk factor

Answer 24

SNP with higher frequency associated with the diease

Question 25

odds ratio

Answer 25

increased risk of having a disease if carrier

Question 26

polygenic risk scores

Answer 26

estimate of relative risk based on variants

Question 27

FOXP4 variant

Answer 27

increased expression in lungs

Question 28

TYK2 variant

Answer 28

missense mutation decreased risk of autoimmune disease

Question 29

SLC6A20

Answer 29

gene binds to Sars-CoV-2 ACE2 receptor