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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。
Objective: To study the relationship between the apolipoprotein E gene polymorphism and the changes of blood lipid profile in healthy population. Methods: One hundred and seventy-six healthy Han nationality unrelated healthy people in Jiangsu province were randomly selected. The ApoE gene amplified by polymerase chain reaction (PCR) consisted of 112 and 158 polymorphic loci. The ApoE genotypes were digested with CfoI. The effects of different genotypes and alleles on lipids, apolipoproteins and lipoprotein (a) were analyzed. Results: The levels of serum total cholesterol (TC), low density lipoprotein cholesterol (LDL C) and apolipoprotein B (ApoB) in all the apolipoprotein E alleles were ε4> ε3> ε2. The ε2 allele significantly reduced the effects of TC, LDL C and ApoB, whereas the effect of the ε4 allele was the opposite. Conclusion: Polymorphism of apolipoprotein E is an independent genetic factor in the difference of blood lipid profile among individuals.