汉族人群ABCA1基因单核苷酸多态性分析

发布时间：2018-10-08 20:48

【摘要】：目的探讨ABCA1基因R219K和-191C/G位点的多态性在汉族人群中的分布,分析其与血脂及冠心病的关系;研究这两个多态性位点的不同基因型人群中吸烟与血脂及冠心病的关系。方法采用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction restriction fragment length polymorphism, PCR-RFLP)的分析方法,检测湖南汉族人群中无血缘关系的132名冠心病患者和157名对照者ABCA1基因R219K和-191C/G位点的多态性,并通过直接测序验证。全自动生化分析仪检测血清总胆固醇(TC)、高密度脂蛋白-胆固醇(HDL-C)、低密度脂蛋白-胆固醇(LDL-C)、载脂蛋白AI(apoAI)、载脂蛋白B(apoB)及血糖的水平。分析不同基因型频率,其分布特点以及与血脂、CHD的相关性。结果 ABCA1基因R219K和-191C/G多态性基因型分布均符合Hardy-Weinberg平衡;湖南地区汉族人群中ABCA1基因R219K多态性位点存在RR、RK、KK三种基因型,发生频率分别为RR(35.3%)、RK(43.6%)、KK(21.1%);启动子区191C/G多态性位点三种基因型的发生频率为:CC(20.1%)、CG(54.7%)、GG(25.2%)。冠心病组KK基因型频率(17.4%)低于对照组(24.2%),KK基因型的HDL-C水平明显高于RR型(P0.05)。冠心病组GG基因型频率(22.7%)低于对照组(27.4%),GG基因型的HDL-C和apoAI水平明显高于CC型(P0.05)。R219K各基因型中KK基因型的冠脉病变程度低于RR、RK基因型(P0.05)。在-191C/G各基因型中,吸烟组GG基因型的HDL-C
[Abstract]:Objective to investigate the distribution of R219K and -191C / G polymorphism of ABCA1 gene in Han population, to analyze the relationship between R219K polymorphism and coronary heart disease (CHD), and to study the relationship between smoking and blood lipid and coronary heart disease (CHD) in different genotypes of these two polymorphism loci. Methods Polymerase chain reaction-restriction fragment length polymorphism (polymerase chain reaction restriction fragment length polymorphism, PCR-RFLP) was used to detect the polymorphism of R219K and -191C / G loci of ABCA1 gene in 132 unrelated coronary heart disease patients and 157 controls in Hunan Han population. The results were verified by direct sequencing. Serum total cholesterol (TC), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C), apolipoprotein AI (apoAI), apolipoprotein B (apoB) and blood glucose were measured by automatic biochemical analyzer. The frequency of different genotypes, their distribution and the correlation with CHD were analyzed. Results the distribution of R219K and -191C / G polymorphisms of ABCA1 gene were consistent with Hardy-Weinberg balance, and there were three RR,RK,KK genotypes at R219K polymorphism of ABCA1 gene in Han population in Hunan. The frequency of RR (35.3%), RK (43.6%), KK (21.1%), and the frequency of three genotypes of 191C/G polymorphism loci in promoter region were as follows: 1. CC (20.1%), CG (54.7%) and GG (25.2%). The frequency of KK genotype (17.4%) in CHD group was significantly higher than that in control group (24.2%) (P0.05). The frequency of GG genotype (22.7%) in CHD group was lower than that in control group (27.4%). The HDL-C and apoAI levels of GG genotype were significantly higher than those of CC genotype (P0.05) .R219K genotype had lower severity of coronary artery disease than RR,RK genotype (P0.05). Among the -191 C / G genotypes, the HDL-C of the GG genotype in the smoking group
【学位授予单位】：南华大学
【学位级别】：硕士
【学位授予年份】：2005
【分类号】：R346

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