低密度脂蛋白受体
等位基因
基因座(遗传学)
内分泌学
基因
胆固醇
脂蛋白
内科学
生物
低密度脂蛋白
遗传连锁
血浆脂蛋白
杂合子优势
家族性高胆固醇血症
遗传学
遗传变异
受体
医学
作者
Jonathan C. Cohen,Allan Gaw,R. Bowling Barnes,Katherine T. Landschulz,Helen H. Hobbs
出处
期刊:Novartis Foundation Symposium
日期:2007-09-28
卷期号:: 194-210
被引量:1
标识
DOI:10.1002/9780470514887.ch11
摘要
The interplay of multiple genes and environmental factors generates interindividual variation in plasma low density lipoprotein-cholesterol (LDL-C) concentrations. As a result, it has been difficult to identify individual genes that contribute to variation in plasma LDL-C levels using classical linkage analysis. We have exploited a genetic defect in the gene encoding the LDL receptor that is associated with a dramatically elevated plasma LDL-C level to unmask an allele at another locus that lowers plasma LDL-C levels. The existence of such an allele was implied by the analysis of a human pedigree with familial hypercholesterolaemia in which a third of the familial hypercholesterolaemia heterozygotes had normal levels of LDL-C. To develop an animal model of this LDL-C lowering effect and to identify genes that modify the plasma LDL-C level, we crossed LDL receptor-deficient mice with other strains of mice.
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