新疆哈萨克族隔离群血管紧张素转换酶基因I/D多态性与高血压病的关系

目的 探讨哈萨克族人群血管紧张素转换酶(angiotensin converting enzyme,ACE)基因第16内含子中的插入／缺失(insertion／deletion，I／D)多态性是否为高血压病(essential hypertension，EH)的遗传易患因素。方法 应用聚合酶链反应检测了新疆巴里坤县201例哈萨克族高血压病患者和151名正常人的ACE基因16内含子I／D多态性。结果 哈萨克族正常人群及高血压患者的ACE基因I／D多态性DD、ID、Ⅱ基因型频率分布分别为0．17、0．43、0．40和0．18、0．52、0．30，D和I等位基因分布频率分别为0．39和0．61和0．44、0．56，符合Hardy-Weinberg平衡。群体相关分析结果表明，ACE基因的D及I等位基因分布在高血压病组及正常血压组的差异无显著性(x^2＝1．98，P＝0.16)；基因型频率之间差异也无显著性(x^2＝4．0，P＝0．14)。结论 ACE基因16内含子I／D多态性可能与新疆巴里坤哈萨克族高血压病无关。

Relationship of I/D polymorphism of angiotensin converting enzyme gene with hypertension in Xinjiang Kazakh isolated group

Objective To investigate whether the insertion/deletion(I/D) polymorphism in the angiotensin converting enzyme(ACE) gene is associated with essential hypertension in Xinjiang Kazakh isolated population.Methods The study covered 201 hypertensives and 151 normotensive controls in Xinjiang Barlikun Kazakh population. The I/D polymorphism of ACE gene was determined by polymerase chain reaction.Results The frequencies of D and I in the hypertensive group (0.44 and 0.56, respectively) were not significantly different from the controls(0.39 and 0.61, respectively, P =0.16). The frequencies of ACE genotypes of DD, ID, and II were 0.18, 0.52, 0.30 in hypertensives respectively and 0.17, 0.43, 0.40 in control group respectively. There was no significant difference in genotypes between hypertensive group and normotensive group ( P =0.14). Conclusion The results suggested that the I/D polymorphism of ACE gene might not be associated with hypertension in the Kazakh population of Xinjiang Barlikun area.