complex genetic diseases Flashcards
heritability: identify heterogeneity in complex genetic disease, explain how we can estimate the heritability of a common complex disease
1
Q
define heritability
A
study of genetic contribution to increased complex disease risk
2
Q
what is an ideal marker?
A
“flag” in a genome allowing study of inheritance
3
Q
characteristics of ideal markers (HiRES)
A
HIghly polymorphic, Randomly distributed, Easily assayable, Stable
4
Q
heterogeneity: difficulties
A
difficult to determine whether genetic; vary between populations, ages, baseline risk disease in population (benchline for low, medium and high contribution to genetic effects), sampling s.d.
5
Q
heterogeneity: examples
A
same gene, different mutations and symptoms (e.g. CF); same disease, different genes, different inheritance patterns (e.g. haemophilia)
