Article
Fine mapping of low-density lipoprotein receptor gene by genetic linkage on chromosome 19p13.1-p13.3 and study of the founder effect of four French Canadian low-density lipoprotein receptor gene mutations.
Atherosclerosis - 1 Mar 1999
Couture P, Morissette J, Gaudet D, Vohl M C, Gagné C, Bergeron J, Després J P, Simard J
Abstract excerpt
Familial hypercholesterolemia (FH) is one of the most common autosomal codominant diseases. FH is caused by mutations in the low-density lipoprotein receptor (LDLR) gene and is characterized by raised plasma LDL-cholesterol, tendon xanthomas, and premature coronary heart disease. The frequency of FH among French Canadians in northeastern Quebec is higher than in most other populations, 1:154 vs. 1:500 due to high...
Topics
- Alleles
- Chromosome Mapping
- Chromosomes, Human, Pair 19
- Founder Effect
- France
- Genetic Linkage
- Genotype
- Heterozygote
- Homozygote
- Humans
- Hyperlipoproteinemia Type II
- Lod Score
- Microsatellite Repeats