广东粤北地区瑶族载脂蛋白E基因多态性与血脂代谢的关系

目的检测广东粤北地区瑶族人群载脂蛋白E（apoE）基因多态性并探讨其与血脂代谢的关系。方法采用聚合酶链反应-限制性片段长度多态性方法（PCR-RFLP）对750例23～80岁广东粤北地区瑶族人群进行apoE基因多态性检测，分析瑶族人群apoE基因频率分布特点，并比较分析不同apoE基因型与血脂水平的关系。结果共检测瑶族apoE6种基因型，以E3／3型最常见，占61．47％，其次E3／4型，占23．07％，E2／3、E2／4、E4／4、E2／24种基因型分别占11．87％、1．73％、1．07％、0.8％；apoE有3种等位基因，以ε3分布频率最高，为81．4％，其次是ε4，分布的频率为9．6％，ε2分布频率最低，为9．0％；男性和女性apoE基因型分布无差异；ε4等位基因携带者的TG、TC、LDL、apoB水平显著高于E2携带者和ε3携带者（P〈0．05）。结论apoE基因多态性影响广东粤北地区瑶族人群的血脂代谢，apoEε4等位基因携带者的TG、TC、TC、LDL、apoB水平较高，推测ε4等位基因可能是瑶族人群患高脂血症的危险因素之一。

Relationship between apolipoprotein E gene polymorphism and blood lipid metabolism in Yao population in Yuebei area of Guangdo province

Objective To determine the polymorphism of apolipoprotein E(ApoE)and its correlation with blood lipid metabolism in Yao population in Yuebei area of Guangdo provinee.Methods The ApoE gene polymorphism of 750 Yao people aged from 23 to 80 was determined by the method of polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP).The characteristic of gene frequency distribution in Yao populations was analyzed,while the relationship between ApoE gene polymorphism and serum lipids was investigated.Results Six apoE genotypes were detected.E3/3 was the major genotype,accounting for 61.47%;followed by E3/4 and E2/3,accounting for 23.07%and 11.87%,respectively;E2/4,E4/4,and E2/2 accounting for 1.73%,1.07% and 0.80%,respectively.Apo E had three alleles,their frequencies were 81.4%(ε3),9.6%(ε4)and 9.O%(ε2).There was no significant difference in the distribution of ApoE genotypes between reales and females.The subjects with ε4 group had a significantly higher level of TC,TG,LDI and ApoB than those with ε3 andε2(all P<0.05).Conclusion ApoE gene polymorphism affects serum lipid metabolism in Yao population in Yuebei area of Guangdo province,andε4 allele carriers have increasing levels of TC,TG,LDL and ApoB.ε4 allele is considered to be associated with an increasing risk for hyperlipidemia in Yao population in Yuebei area of Guangdong province.