CAJ | 학술논문

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。
목적탐토을철탈경매2(ALDH2)기인제504위점(Glu504Lys)다태성여신강한족인군원발성고혈압적관계。방법선취무친연관계적217례한족(기중고혈압조108례、대조조109례)，채용기인심편법비교량조ALDH2기인형적분포빈솔시부존재차이。결과검측도삼충기인형，한족인군기인형분포부합Hardy-Weinberg평형；신강한족인군여상해시、산동성、락양시、절강성한족비교기인형균무통계학차이(균>0.05)。 ALDH2야생순합자형ALDH2*1원*1、ALDH2돌변잡합형ALDH2*1원*2화ALDH2돌변순합자형ALDH2*2원*2재고혈압조중발생솔분별위64.8%(70/108)、30.6%(33/108)、4.6%(5/108)；재대조조중발생솔분별위69.7%(76/109)、29.4%(32/109)、0.9%(1/109)；고혈압조、대조조등위기인*1적발생솔분별위80.1%、84.4%，등위기인*2적발생솔분별위19.9%、15.6%。량조간을철탈경매2(ALDH2)기인적제504위점기인형급등위기인분포차이무통계학의의(>0.05)。결론신강한족인군여본문중제도적기타지구한족인군을철탈경매2기인형급등위기인분포대치상동，고혈압조여대조조을철탈경매2기인다태성급등위기인분포대치상동。
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.