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目的 探讨哈萨克族人群内皮型一氧化氮合酶 (eNOS)基因多态性与原发性高血压关联性。方法 应用聚合酶链反应、限制性内切酶方法检测了新疆巴里坤县 2 0 3例哈萨克族高血压病患者和 190例正常人群eNOS基因G894T多态性。结果 哈萨克族正常人群及高血压患者的eNOS基因G894T多态GG、GT、TT基因型频率分布分别为 0 74 ,0 2 4 ,0 0 2和 0 81,0 18,0 0 1,G和T等位基因分布频率分别为 0 86 ,0 14和 0 90 ,0 10 ,符合Hardy Wein berg平衡。群体相关分析结果表明 :eNOS基因的G及T等位基因分布在高血压病组 (EH)及正常血压组 (NT)差异无显著性 (χ2 =3 5 80 ,P =0 0 5 8) ;基因型频率之间差异无显著性 (χ2 =4 0 37,P =0 133)。然而男性EH组G等位基因频率 (0 90 )高于NT组 (0 86 ) ;T等位基因频率 (0 0 6 )低于NT组 (0 14 )。结论 eNOS基因G894T多态性可能与新疆巴里坤哈萨克族男性高血压有关。
Objective To investigate the association of eNOS gene polymorphism with essential hypertension in Kazak population. Methods Polymerase chain reaction and restriction endonuclease assay were used to detect the G894T polymorphism of eNOS gene in 230 Hypertension patients and 190 normal controls in Barkol County, Xinjiang. Results The frequency distribution of GG94T polymorphism of GG94T polymorphism of eNOS gene in Kazakh normal population and hypertensive patients were 0 74, 0 2 4, 0 0 2 and 0 81 0 18 0 0 1, G and T The frequencies of alleles were 0 86, 0 14, 0 90 and 0 10, respectively, which were in line with Hardy Weinberg equilibrium. The results of population analysis showed that the distribution of G and T alleles of eNOS gene was not significantly different between hypertension group and normal blood pressure group (χ2 = 3580, P = 0 058). There was no significant difference in genotype frequencies (χ2 = 4 0 37, P = 0 133). However, the frequency of G allele (0 90) in male EH group was higher than that in NT group (866); the frequency of T allele (0 0 6) was lower than that of NT group (0 14). Conclusion The G894T polymorphism of eNOS gene may be related to the Kazakh hypertension in Barkol Kunming.