Article
A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.
American journal of human genetics - 1 Aug 1991
Meiner V, Landsberger D, Berkman N, Reshef A, Segal P, Seftel H C, van der Westhuyzen D R, Jeenah M S, Coetzee G A, Leitersdorf E
Abstract excerpt
Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the low-density-lipoprotein (LDL) receptor. Here we characterize an LDL-receptor founder mutation that is associated with a distinct LDL-receptor haplotype and is responsible for FH in 35% of 71 Jewish-Ashkenazi FH families in Israel. Sixty four percent (16/25) of the Ashkenazi patients who carry this mutant allele were of...
Topics
- Alleles
- Base Sequence
- DNA
- Ethnicity
- Female
- Genes, Dominant
- Genetic Carrier Screening
- Haplotypes
- Humans
- Hyperlipoproteinemia Type II
- Jews