Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians.

doi:10.1007/BF00219339

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Article

Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians.

Human genetics - 1 Mar 1992

Bétard C, Kessling A M, Roy M, Chamberland A, Lussier-Cacan S, Davignon J

Abstract excerpt

Familial hypercholesterolemia (FH), at a prevalence of about 1 in 200 in the French-Canadian population, is caused by a 10-kb deletion in the low-density lipoprotein (LDL) receptor gene in 60% of French-Canadian FH heterozygotes. We genotyped 159 FH patients who carry this common mutation and 221 healthy French-Canadian controls for five DNA restriction fragment length polymorphisms (RFLPs) of the LDL receptor...

Topics

Alleles
Canada
Ethnicity
Female
France
Gene Frequency
Genotype
Heterozygote
Humans
Hyperlipoproteinemia Type II
Lipids
Lipoproteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Pedigree

Polymorphism, Restriction Fragment Length

Prevalence

Receptors, LDL

Reference Values

Source

Open in PubMed

Identifiers

PMID: 1348044
DOI: 10.1007/BF00219339

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1348044-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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