【摘要】 目的 :研究载脂蛋白E基因多态性与健康人群血脂谱改变的关系。方法 :随机选择 1 68例江苏地区无血缘关系健康汉族人群 ,聚合酶链反应扩增ApoE基因包含编码 1 1 2及 1 58多态位点的片段 ,CfoI酶切后检测ApoE基因型。分析各基因型及等位基因对血脂、载脂蛋白及脂蛋白 (a)的影响。结果 :载脂蛋白E各等位基因血清总胆固醇 (TC)、低密度脂蛋白胆固醇 (LDL C)及载脂蛋白B(ApoB)水平由高到低依此为ε4>ε3>ε2 。ε2 等位基因具有明显的降低TC、LDL C和ApoB的作用 ;而ε4等位基因的作用正相反。结论 :载脂蛋白E基因多态性是个体间血脂谱差异的独立遗传因素。更多还原

【Abstract】 Objective: To study the effects of Apolipoprotein E (ApoE) polymorphism on serum levels of lipids, lipoproteins and apolipoproteins. Methods: Fragments of ApoE gene forth exon containing codon 112 and 158 polymorphic locus were amplified by PCR, and then digested with Cfo I endonuclease. Genotypes and alleles frequencies of 168 healthy persons in Jiangsu area were calculated. The effects of ApoE genotypes and alleles on serum lipids, lipoproteins and apolipoproteins variation were analyzed. Results: The effects of ApoE alleles on total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C), ApoB was: along a decreasing gradient ε 4>ε 3>ε 2. The effect of ε 4 allele was to increase serum levels of TC, LDL-C and ApoB, and the ε 2 allele had an effect opposite to that of ε 4 allele. Conclusion: ApoE polymorphism is an independent genetic factor on individual serum levels of lipids and apolipoproteins.更多还原