Article
Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry.
Clinical genetics - 1 May 1999
Loubser O, Marais A D, Kotze M J, Godenir N, Thiart R, Scholtz C L, de Villiers J N, Hillermann R, Firth J C, Weich H F, Maritz F, Jones S, van der Westhuyzen D R
Abstract excerpt
The South African population harbors genes that are derived from varying degrees of admixture between indigenous groups and immigrants from Europe and the East. This study represents the first direct mutation-based attempt to determine the impact of admixture from other gene pools on the familial hypercholesterolemia (FH) phenotype in the recently founded Coloured population of South Africa, a people of mixed...
Topics
- Founder Effect
- Haplotypes
- Humans
- Hyperlipoproteinemia Type II
- Mutation
- Phenotype
- Prevalence
- Receptors, LDL
- South Africa