Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene.
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.
Wood
S
S
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Schertzer
M
M
Hayden
M
M
Ma
Y
Y
D000328:Adult; D000483:Alleles; D001483:Base Sequence; D002170:Canada; D016009:Chi-Square Distribution; D002648:Child; D004252:DNA Mutational Analysis; D004276:DNA, Satellite / Q000032:analysis*; D005260:Female; D005602:France / Q000208:ethnology; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000208:ethnology* / Q000235:genetics*; D015810:Linkage Disequilibrium; D008071:Lipoprotein Lipase / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011792:Quebec; D012091:Repetitive Sequences, Nucleic Acid
D004276:DNA, Satellite; D008071:Lipoprotein Lipase