S. Wood et al., SUPPORT FOR FOUNDER EFFECT FOR 2 LIPOPROTEIN-LIPASE (LPL) GENE-MUTATIONS IN FRENCH-CANADIANS BY ANALYSIS OF GT MICROSATELLITES FLANKING THELPL GENE, Human genetics, 91(4), 1993, pp. 312-316
Mutations in the human lipoprotein lipase (LPL) gene are one of the ma
jor causes of familial chylomicronemia. We have characterized two poly
morphic GT microsatellites flanking this gene. Two LPL mutations that
are extremely frequent in French Canadians appear to be in complete li
nkage disequilibrium with specific LPL microsatellite haplotypes indic
ating a founder effect within this population.