乙醛脱氢酶2基因多态性在上海市与山东省汉族人群中的分布差异

Distributed Difference of Aldehyde Dehydrogenase 2(ALDH2) Polymorphism in Shanghai and Shandong Han Population

目的：了解乙醛脱氢酶2（aldehyde dehydrogenase 2,ALDH2）基因多态性在上海市与山东省汉族人群中的分布。方法：随机采集无血缘相关的601例上海市和617例山东省健康汉族人群的静脉血,提取DNA后应用变性高效液相色谱（denatu-ringhigh-performance liquid chromatography,DHPLC）技术检测研究对象的ALDH2基因型,并进行相应等位基因频率的比较。结果：上海市汉族人群ALDH2＊1/ALDH2＊1、ALDH2＊1/ALDH2＊2和ALDH2＊2/ALDH2＊2,3种基因型分别为65.4%,29.8%,4.8%;ALDH2＊1和ALDH2＊2等位基因的频率分别为80.3%和19.7%。山东省汉族人群ALDH2＊1/ALDH2＊1、ALDH2＊1/ALDH2＊2和ALDH2＊2/ALDH2＊2,3种基因型分别为72.1%、26.3%、1.6%;ALDH2＊1和ALDH2＊2等位基因的频率分别为85.3%和14.7%。基因型和等位基因的频率两个人群比较,差异均有统计学意义（P〈0.001）。结论：上海市汉族人群ALDH2~＊2等位基因的频率高于山东省汉族人群。

Objective：To investigate the distributed difference of aldehyde dehydrogenase 2（ALDH2） polymorphism in Shanghai and Shandong Han Population.Methods;DNA were extracted from randomized,unrelated population in Shanghai and Shandong Province,601 and 617 residents respectively,and ALDH2 genotypes were detected by denaturing high-performance liquid chromatography（DHPLC）.Results;The frequencies of ALDH2 genotypes in Shanghai residents were ALDH2＂ 1/ AL-DH2＊ 1 65.4%,ALDH2＊ 1/ALDH2＊2 29.8%and ALDH2＊2/ALDH2＊ 2 4.8%,respectively;The allele frequency of AL-DH2＊ 1 was 80.3%and 19.7%for ALDH2＊ 2.The frequencies of ALDH2 genotypes in Shandong residents were ALDH2＊ 1/ ALDH2＊ 1 72.1%,ALDH2＊ 1/ALDH2＊ 2 26.3%and ALDH2＊ 2/ALDH2＊ 2 1.6%,respectively;The allele frequency of ALDH2＊ 1 was 85.3%and 14.7%for ALDH2＊ 2.Significant difference was found in genotype and allele frequency of ALDH2 between the two groups（all P〈0.001）.Conclusions：The allele frequency of ALDH2＂ 2 in Shanghai Han Population was significantly higher than that in Shandong.