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目的探讨乙醛脱氢酶2(ALDH2)基因第504位点(Glu504Lys)多态性与新疆汉族人群原发性高血压的关系。方法选取无亲缘关系的217例汉族(其中高血压组108例、对照组109例)，采用基因芯片法比较两组ALDH2基因型的分布频率是否存在差异。结果检测到三种基因型，汉族人群基因型分布符合Hardy-Weinberg平衡；新疆汉族人群与上海市、山东省、洛阳市、浙江省汉族比较基因型均无统计学差异(均>0.05)。 ALDH2野生纯合子型ALDH2*1辕*1、ALDH2突变杂合型ALDH2*1辕*2和ALDH2突变纯合子型ALDH2*2辕*2在高血压组中发生率分别为64.8%(70/108)、30.6%(33/108)、4.6%(5/108)；在对照组中发生率分别为69.7%(76/109)、29.4%(32/109)、0.9%(1/109)；高血压组、对照组等位基因*1的发生率分别为80.1%、84.4%，等位基因*2的发生率分别为19.9%、15.6%。两组间乙醛脱氢酶2(ALDH2)基因的第504位点基因型及等位基因分布差异无统计学意义(>0.05)。结论新疆汉族人群与本文中提到的其他地区汉族人群乙醛脱氢酶2基因型及等位基因分布大致相同，高血压组与对照组乙醛脱氢酶2基因多态性及等位基因分布大致相同。“,”Objective To investigate the association between gene polymorphism of ALDH2 (Gh504Lys)and hypertension among Xinjiang Han people.Methods A total of 217unrelated Xinjiang Han people were difided into hypertension group(rt=108)and control group(n=109).Gene chip method Was used to detect the mutation.ALDH2 gene(Glu504Lys)polymorphisms distribution of the two groups were compared.Results Three dif erent ALDH2 gene (Glu504Lys)genotypes were observed in this study. The distribution of the three ALDH2 genotypes 0f two group were according with Hardy-Weinberg principle.The frequencies of wild-type ALDH2 (ALDH2*1/*1),mutant heterozygous type ALDH2 (ALDH2*/*2)and mutant homozygous type ALDH2 (ALDH2*2/*2) In the hypertension group were 64.8%, 30.6%, 4.6%,respectively.In control group were 69.7%, 29.4%, 0.9%,respectively. The frequencies of ALDH2*1 in hypertension and control group were 80.1%、84.4%,respectively;The frequencies of ALDH2*2 were19.9%,15.6%,respectively. There is no significant between hypertension and control group.Condusion Han patient in Xinjiang and other regions mentioned in this article Han patient aldehyde dehydrogenase 2 genotype and al ele have the same distribution.hypertension and control group aldehyde dehydrogenase 2 genotype and al ele have the same distribution.