21/08 Lecture 18 - Genetic Variation and Disease II

Continuous trait

This is a trait that is measured across a range

Dichotomous trait

This is a trait that is measured as an exact yes/no

ALDH2 deficiency

A condition caused by a loss of the enzyme that oxidises acetaldehyde to acetate, and the subsequent accumulation of acetaldehyde

GWAS

This is a type of study used to determine if any genetic variants are associated with a phenotype of interest

Somatic mutation

This is a mutation that occurs in somatic cells, usually removed by the immune system but may cause cancer

Proto-oncogene

This is a type of gene that encodes proteins promoting cellular growth

Tumor suppressor gene

This is a type of gene that encodes proteins preventing uncontrolled cellular growth

BRCA1/BRCA2 genes

These are tumor suppressor genes that when mutated, may increase the risk of breast cancer