通过分析脂蛋白脂肪酶（LPL）基因侧翼的GT微卫星，支持法裔加拿大人中两种脂蛋白脂肪酶（LPL）基因突变的奠基者效应。
Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene.
作者信息
Wood S, Schertzer M, Hayden M, Ma Y
机构信息
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
出版信息
Hum Genet. 1993 May;91(4):312-6. doi: 10.1007/BF00217348.
PMID:8099055
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.
摘要
人类脂蛋白脂肪酶（LPL）基因突变是家族性乳糜微粒血症的主要病因之一。我们已对该基因两侧的两个多态性GT微卫星进行了特征描述。在法裔加拿大人中极为常见的两种LPL突变似乎与特定的LPL微卫星单倍型完全连锁不平衡，这表明该人群中存在奠基者效应。
Zotero 插件