载脂蛋白A-I基因启动子区域G→A置换对血浆HDL水平的影响  

Genomic Analysis of the Substitution of G to A at Apolipoprotein Al Gene Promoter: Effects on Plasma HDL-Cholesterol

作　　者：毛用敏[1] 崔让庄[1] 程津新[1] 陈倩[1] 赵燕行 朱天慧[2] 

机构地区：[1]天津市心血管病研究所,300051 [2]南开大学医学院

出　　处：《天津医药》1999年第6期326-328,共3页Tianjin Medical Journal

基　　金：天津市自然科学基金

摘　　要：采用ＰＣＲ扩增法和限制性片段长度多态性分析法，对１１５例正常人和１１８例冠心病患者的载脂蛋白Ａ－Ｉ基因启动子区域－７８ｂｐ位点腺嘌呤与鸟嘌呤置换进行检测，并观察此位点基因变异对血浆ＨＤＬ－ｃｈ和ａｐｏＡ－Ｉ含量的影响。结果显示，血浆 ＨＤＬ－ｃｈ和 ａｐｏＡ－Ｉ含量在三种基因型中无显著性差异（Ｐ＞０．０５），基因型在正常 ＨＤＬ－ｃｈ和低ＨＤＬ－ｃｈ水平中的分布差异亦无显著性（Ｐ＞０．０５）。结论：ａｐｏＡ－Ｉ基因启动子部位－７８ｂｐ位点基因变异不影响血浆ＨＤＬ含量，Ａ等位基因与升高的ＨＤＬ水平无相关性。118 patients with coronary heart disease (CHD) and 115 control subjects were investigated in order to elucidate the association between the G to A substitution at -78bp in the promoter of apoAI gene and plasma HDL levels. ApoAI genotype was determined by polymerase chain reaction(PCR) amplification of genomic DNA and restriction with MspI. The results showed that plasma concentrations of HDL-ch and apoAI did not vary in different genotypes. The genotype frequencies in normal level of HDL did not differ from those in lower level. The analysis indicated that the mutation at -78bp did not affect the plasma HDL concentration, there was no association between A allele and high HDL level.

关 键 词：载脂蛋白A-I 等位基因 RFLP HDL 冠心病 

分 类 号：R541.4[医药卫生—心血管疾病]