文章基本信息

标题：Apolipoprotein A-I/C-III/A-IV gene cluster in familial combined hyperlipidemia: effects on LDL-cholesterol and apolipoproteins B and C-III.
本地全文：下载
作者：G M Dallinga-Thie ; X D Bu ; M van Linde-Sibenius Trip 等
期刊名称：JLR Papers In Press
印刷版ISSN：0022-2275
电子版ISSN：1539-7262
出版年度：1996
卷号：37
期号：1
页码：136-147
语种：English
出版社：American Society for Biochemistry and Molecular Biology
摘要：The underlying genetic abnormalities in familial combined hyperlipidemia (FCH) have not been elucidated, although previous association and linkage studies have implicated the apoA-I/C-III/A-IV gene cluster. We now report studies of this cluster in 18 probands, 390 family members (hyperlipidemic relatives, n = 179; normolipidemic relatives, n = 211), and 177 spouses. Three restriction enzyme polymorphisms, XmnI and MspI sites 5' of the apoA-I gene and the SstI site in the 3' untranslated region of exon 4 of the apoC-III gene, were examined. In hyperlipidemic relatives and FCH probands, the frequency of each minor allele was significantly higher than in spouses. Associated with the higher frequency of minor alleles were elevated plasma cholesterol, triglycerides, LDL-cholesterol, apoB, and apoC-III levels. Quantitative sib-pair analysis revealed linkage between the MspI minor allele and plasma LDL cholesterol levels (P