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[目的]研究毛南族人群载脂蛋白(apo)E基因多态性及其与血脂水平的关系,为我国少数民族群体遗传学以及高脂血症、心脑血管疾病、老年性痴呆等慢性疾病的预防和发病机制研究提供基础资料。[方法]收集221例贵州省黔南州毛南族人群血样品,应用聚合酶链反应-限制性片段长度多态性方法(PCR-RFLP)检测apoE2/E3/E4基因多态性。[结果]毛南族人群apoE2/2、E2/3、E2/4、E3/3、E3/4和E4/4基因型频率分别为:1.36%、12.22%、3.17%、64.71%、18.10%和0.45%;ε2、ε3、ε4等位基因的频率分别为:9.05%、79.86%、11.09%。与不同种族和国内不同民族人群比较,毛南族ε4等位基因频率处于中等水平;ε2等位基因频率与国内多数汉族和少数民族人群相似。与apoE2携带者(apoE2/2+E2/3+E2/4)比较,apoE3/3纯合子和apoE4携带者(apoE3/4+E4/4)有更高的血清总胆固醇和低密度脂蛋白胆固醇水平以及动脉硬化指数(P﹤0.001)。[结论]ApoE基因型和等位基因频率存在民族、种族差异。毛南族apoE2/E3/E4基因多态性与血清总胆固醇、低密度脂蛋白胆固醇水平和动脉硬化指数相关联。
[Objective] To investigate the relationship between the polymorphism of apo E gene and blood lipid level in Maonan ethnic group, to study the relationship between genetic polymorphism of ethnic minority population and chronic diseases such as hyperlipidemia, cardiovascular and cerebrovascular diseases, Alzheimer’s disease and so on in our country. The prevention and pathogenesis research to provide basic information. [Method] 221 blood samples from Maonan people in Qiannan Prefecture of Guizhou Province were collected. The apoE2 / E3 / E4 gene polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). [Results] The frequencies of apoE2 / 2, E2 / 3, E2 / 4, E3 / 3, E3 / 4 and E4 / 4 genotypes in Maonan were 1.36%, 12.22%, 3.17%, 64.71%, 18.10% and 0.45%. The frequencies of ε2, ε3 and ε4 alleles were 9.05%, 79.86% and 11.09%, respectively. Compared with different nationalities and ethnic groups, Maonan ε4 allele is at a moderate level; the ε2 allele frequency is similar to that of most Han and minority nationalities in China. Compared with apoE2 carriers (apoE2 / 2 + E2 / 3 + E2 / 4), apoE3 / 3 homozygotes and apoE4 carriers (apoE3 / 4 + E4 / 4) had higher serum total cholesterol and low density lipoprotein cholesterol Level and arteriosclerosis index (P <0.001). [Conclusion] ApoE genotypes and allele frequencies have ethnic and racial differences. The Maonan apoE2 / E3 / E4 gene polymorphisms were associated with serum total cholesterol, low density lipoprotein cholesterol, and arteriosclerosis index.