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11 Cards in this Set

  • Front
  • Back
Quantitative trait loci?
Name one example
The genetic loci that affect quantitative traits

Blood pressure
Haplotypes
A set of closely linked alleles inherited as a unit
Why do haplotypes exist?
Crossing over occurs only about twice per chromosome per generation
What happens to haplotypes over many generations?
They decay
How much of your genetic variation occurs outside of genes?
2/3
"Common" polymorphism
>5% minor allele frequency
Uncommon or infrequent polymorphism
1-5% MAF
Rare polymorphisms
<1% of MAF
Private polymorphisms
Only seen in one patient or their family
General ballpark numbers for rare, uncommon/infrequent, and common diseases?
Rare: 1:1000-1:1,000,000
Uncommon: 1:100-1:1000
Common: 1:3-1:100
BRCA1 and BRCA2
BRCA1=More likely to have ovarian cancer