Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene

S Wood; M Schertzer; M Hayden; Y Ma

doi:10.1007/BF00217348

Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene

Hum Genet. 1993 May;91(4):312-6. doi: 10.1007/BF00217348.

Authors

S Wood¹, M Schertzer, M Hayden, Y Ma

Affiliation

¹ Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

PMID: 8099055
DOI: 10.1007/BF00217348

Abstract

Mutations in the human lipoprotein lipase (LPL) gene are one of the major causes of familial chylomicronemia. We have characterized two polymorphic GT microsatellites flanking this gene. Two LPL mutations that are extremely frequent in French Canadians appear to be in complete linkage disequilibrium with specific LPL microsatellite haplotypes indicating a founder effect within this population.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Alleles
Base Sequence
Canada
Chi-Square Distribution
Child
DNA Mutational Analysis
DNA, Satellite / analysis*
Female
France / ethnology
Gene Frequency
Haplotypes
Humans
Hyperlipoproteinemia Type I / ethnology*
Hyperlipoproteinemia Type I / genetics*
Linkage Disequilibrium
Lipoprotein Lipase / genetics*
Male
Molecular Sequence Data
Mutation*
Pedigree
Polymorphism, Restriction Fragment Length
Quebec
Repetitive Sequences, Nucleic Acid

Substances

DNA, Satellite
Lipoprotein Lipase