【摘要】 [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。更多还原

【Abstract】 [Objective]To study the distribution of apolipoprotein(apo)E gene polymorphism and its relation to plasma lipid concentrations in Chinese Maonan ethnic group.[Methods]Two hundred and twenty one subjects from a population of Maonan ethnic minority in Qiannan autonomous area of Guizhou province were studied by using polymerase chain reaction-restriction fragment length polymorphisms(PCR-RFLPs).Serum lipid concentrations were measured by enzymatic kids.[Results]The frequencies of apoE genotype E2/2,E3/2,E4/2,E3/3,E4/3,and E4/4 were 1.36%,12.22%,3.17%,64.71%,18.10%,and 0.45%,respectively.The frequencies of allele ε2,ε3 and ε4 were 9.05%,79.86% and 11.09%,respectively.The frequency of allele ε4 in Maonan ethnic group was in an average level compared to the other national/ethnic population,but it was significantly higher than that of Dai nationality,Zhuang nationality(P﹤0.01),and lower than that of Swedish population,Finnish population,and African Americans(P﹤0.001).The frequency of alleleε2 in Maonan ethnic group was similar to that of most Chinese nations,but it was significantly higher than that of Uygur nationality,Japanese population and Finnish population(P﹤0.05).Serum total cholesterol(TC),low-density lipoprotein cholesterol(LDL-C)concentrations,and atherogenic index in apoE3/3 homozygotes and carriers with apoE4 isoform(E3/4+E4/4)were significantly increased compared to carriers with apoE2 isoform(E2/2+E2/3+E2/4)(P﹤0.001)in Maonan minority.[Conclusion]There is a frequency difference of the apoE genotype and allele among difference national/ethnic population.The frequencies of apoE genotype were associated with serum TC,LDL-C levels and atherogenic index in Maonan ethnic group.更多还原