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论著: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
弭守玲 范凡 李纪明 付明强 孙爱军 葛均波
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作者单位:复旦大学附属中山医院心内科
中文关键字:乙醛脱氢酶2;变性高效液相色谱;基因多态性;等位基因;频率
英文关键字:Aldehyde dehydrogenase 2; Denaturing high-performance liquid chromatography; Gene polymorphism; Allele; Frequency
中文摘要: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(denaturing high-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。
英文摘要: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/ ALDH2*1 65.4%, ALDH2*1/ALDH2*2 29.8% and ALDH2*2/ALDH2*2 4.8%, respectively; The allele frequency of ALDH2*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.
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