Module 8 Flashcards

1
Q

Digenic diallelic inheritance

A

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

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2
Q

polygenic traits

A

result of action of more than one gene

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3
Q

multifactorial traits

A

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

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4
Q

QTL quantitative traits

A

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

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5
Q

additive model

A

bell shaped curve

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6
Q

threshold model

A

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

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7
Q

empiric risk

A

statistic based on observation alone

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8
Q

incidence

A

rate in which an event occurs in a population

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9
Q

prevalence

A

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

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10
Q

heritability

A

degree of variation in a trait from genetic factors

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11
Q

coefficient of relatedness

A

primary vs secondary relatives

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12
Q

concordance

A

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

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13
Q

discrete multifactorial trait

A

either you have it or you don’t

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14
Q

conditional/inducible traits

A

traits that manifest in external conditions

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15
Q

pharmacogenetic disease

A

response to pharmaceutical agent

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16
Q

prions

A

mutant misfolded proteins

17
Q

GWAS

A

genome wide associated studies maps multifactorial diseases

18
Q

marker types

A

SNP, CNV, gene expression

19
Q

linkage disequilibrium

A

not independent, inherited in blocks

20
Q

haplotype block

A

region of the genome containing SNPs inherited together

21
Q

recombination hotspots

A

recombination that occurs at non-random spots

22
Q

tag SNP

A

single SNP provides info for a block

23
Q

hapmap project

A

map of common SNPs in the genome for complex diseases

24
Q

risk factor

A

SNP with higher frequency associated with the diease

25
odds ratio
increased risk of having a disease if carrier
26
polygenic risk scores
estimate of relative risk based on variants
27
FOXP4 variant
increased expression in lungs
28
TYK2 variant
missense mutation decreased risk of autoimmune disease
29
SLC6A20
gene binds to Sars-CoV-2 ACE2 receptor