Module 8 Flashcards
Digenic diallelic inheritance
mutations in 2 genes are not linked. pattern like autosomal dominant
polygenic traits
result of action of more than one gene
multifactorial traits
result of genetic and environmental factors. runs in family and severity increases risk
QTL quantitative traits
polygenic and vary, display continuous variation in population (height/weight)
additive model
bell shaped curve
threshold model
traits vary in a population. the more factors one has crosses a threshold into an affected phenotype
empiric risk
statistic based on observation alone
incidence
rate in which an event occurs in a population
prevalence
proportion of individuals in a population with a disorder at a specific time
heritability
degree of variation in a trait from genetic factors
coefficient of relatedness
primary vs secondary relatives
concordance
if one twin has a trait, how often does the second twin have the same trait
discrete multifactorial trait
either you have it or you don’t
conditional/inducible traits
traits that manifest in external conditions
pharmacogenetic disease
response to pharmaceutical agent
prions
mutant misfolded proteins
GWAS
genome wide associated studies maps multifactorial diseases
marker types
SNP, CNV, gene expression
linkage disequilibrium
not independent, inherited in blocks
haplotype block
region of the genome containing SNPs inherited together
recombination hotspots
recombination that occurs at non-random spots
tag SNP
single SNP provides info for a block
hapmap project
map of common SNPs in the genome for complex diseases
risk factor
SNP with higher frequency associated with the diease
odds ratio
increased risk of having a disease if carrier
polygenic risk scores
estimate of relative risk based on variants
FOXP4 variant
increased expression in lungs
TYK2 variant
missense mutation decreased risk of autoimmune disease
SLC6A20
gene binds to Sars-CoV-2 ACE2 receptor
