湖北省利川市土家族人群载脂蛋白E基因多态性及血脂水平的流行病学分析

目的:研究湖北省利川市土家族人群中载脂蛋白E(ApoE)基因型和等位基因频率以及ApoE表型与血脂水平之间的关系。方法:应用等位基因特异性多重聚合酶链反应技术(multi-ARMSPCR)对431例土家族健康人群的ApoE基因型进行分析,并测定所有样本血脂水平,对结果进行统计学分析。结果:ApoE各基因型频率分别为:ε2/2=0.464%、ε2/3=12.07%、ε2/4=1.62%、ε3/3=74.94%、ε3/4=10.21%、ε4/4=0.696%;各等位基因频率分别为ε2=0.0729、ε3=0.862、ε4=0.0651。频率分布与年龄、性别无关。国人ε3等位基因频率明显高于欧美人群,而ε4等位基因频率明显低于欧美人群。携带ε4等位基因的个体具有较高的总胆固醇(TC)及低密度脂蛋白胆固醇(LDL-C)水平。结论:湖北省利川市土家族人群ApoE等位基因频率分布与中国其他地区汉族人群频率分布比较无显著性差异;与亚洲人群如日本、新加坡人群基本接近,与欧美人群不同。

Prevalence Study of Apolipoprotein E Gene Polymorphism and Lipid Level in Lichuang Tujia Ethnic Minority

Objective:To investigate association of lipid level with ApoE genotype,ApoE allel frequency(AF),Apo E phenotype in healthy adult population of Tujia ethnic minority in Lichuang city.Method:Apo E genotype was determined by multiple amplification refractory mutation system polymerase chain reaction(Multi-ARMS PCR)in 431 healthy adult of Tujia ethnic minority.Lipid levels of them were measured by standard method.Results:ApoE AF of Tujia ethnic minority were ε2/2=0.464%,ε2/3=12.07%,ε2/4 =1.62%,ε3/3 = 74.94 %,ε3/4 = 10.21%,ε4/4=0.696% respectively.No correlation among AF,age and sex.Apo E AF of ε3 was significantly higher while ε4 was much lower than those of wetern population.Population among those who carrying ε4 AF had high level of TC and LDL-C.Conclusion:There is no significant difference of ApoE AF distribution between Tujia ethnic minority and those of Han ethnic in China.It also shows close ratio to other easten asian population such as Janpaness,Sigaporeness,but different from those of western country.