Genetics Of Common Disease Flashcards

1
Q

What is the definition of heritability?

A

The proportion of variation in a trait explained by inherited genetic variants

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2
Q

How is heritability measured?

A

By the trait similarity in monozygotic twins vs the trait similarity in dizygotic twins

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3
Q

How much of the germline genetic variations do monozygotic twins share?

A

100%

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4
Q

How much of the germline genetic variations do dizygotic twins share?

A

50%

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5
Q

How much of the genetic variations do full siblings share?

A

50%

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6
Q

How much of the genetic variations do half siblings share?

A

25%

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7
Q

What will the h^2 of a gene be if it’s highly influenced by genes?

A

> 0.8

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8
Q

What is linkage disequilibrium?

A

The difference between the observed frequency of a particular combination of alleles at two loci and the frequency expected for random association

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9
Q

What does a strong linkage disequilibrium mean for the SNPs?

A

Less need genotyping as LD between two SNPs decrease with physical distance

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10
Q

What is the Bonferroni correction?

A

If the number of SNPs genotyped is n, we set the threshold to be 0.05/n so that we can avoid including false positives in our findings

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11
Q

What is the goal of GWAS?

A

Identify genetic regions that explain differences in phenotype among individuals in a study population

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12
Q

What are the three possibilities if you identify a SNP that is significantly associated with disease?

A

There is a causal relationship between the SNP and disease
The marker is in linkage disequilibrium with a causal locus
False positive

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