探讨内皮型一氧化氮合酶基因27bp VNTR多态性与新疆哈萨克族和汉族原发性高血压的相关性研究。运用多重单碱基延伸分型技术(Multiplex SNapshot)对新疆哈萨克族363例高血压患者和370例健康对照,汉族346例高血压患者,385例健康对照进行eNOS基因27bp VNTR多态性分型,比较基因型、等位基因在病例和对照组中的分布频率及同一基因型、等位基因频率在两民族间的差异性及与原发性高血压(EH)的相关性。结果显示:(1)哈萨克族人群中检测到4种基因型bb、aa、ab、bc,EH组及对照组中的分布频率分别为78.5%、78.6%;1.9%、1.1%;19.0%、20.0%;0.6%、0.3%,组间差异无统计学意义(P〉0.05)。等位基因b、a、c在EH组和对照组中分布频率分别为88.3%、88.8%;11.4%、11.1%;0.3%、0.1%,组间差异无统计学意义(P〉0.05);(2)汉族对照组中检测到四种基因型bb、aa、ab、bc,未在EH组检测到bc基因型,EH组及对照组中的分布频率分别为80.3%、79.5%;0.9%、1.0%;18.8%、19.2%;0%、0.3%,组间差异无统计学意义(P〉0.05)。等位基因b、a、c在EH组和对照组中分布频率分别为89.7%、89.2%;10.3%、10.6%;0%、0.2%,组间差异无统计学意义(P〉0.05);(3)eNOS基因27bp VNTR位点基因型及等位基因在汉族与哈萨克族总人群、高血压及非高血压人群中差异无统计学意义(P〉0.05)。新疆哈萨克族和汉族居民eNOS基因27bp VNTR多态性与原发性高血压不相关。
To study correlation between the endothelial nitric oxide synthase gene 27bp VNTR polymorphism and essential hypertension in Xinjiang Kazak and Han people we used Multiplex SNaPshot to compare Kazakh 363 hypertensive patients and 370 healthy people,346 Han patients with hypertension and 385 healthy people,and the genotype and allele in cases and controls the frequency of essential hypertensionwere compared.The result showed that(1)Among Kazaks were detected four genotypes bb,aa,ab,bc,and distribution of frequencies were 78.5%,78.6%;1.9%,1.1%;19.0%,20.0%;0.6%,0.3% in EH group and control group,it wasn't significanted difference between the groups(P0.05).Alleles b,a,c in EH group and control group,distribution of frequencies were 88.3%,88.8%;11.4%,11.1%;0.3%,0.1%,it wasn't significanted difference between the groups(P0.05).(2)Detected among Han population were four genotypes bb,aa,ab,bc,but didn't detect bc in the EH group genotype,EH group and control group in the distribution of frequencies were 80.3%,79.5%;0.9 %,1.0%;18.8%,19.2%;0%,0.3%,it wasn't significance difference between the groups(P0.05).Alleles b,a,c in the EH group and control group,distribution of frequencies were 89.7%,89.2%;10.3%,10.6%;0%,0.2%,it wasn't significant difference between the groups(P0.05).(3) 27bp VNTR eNOS gene genotypes and alleles was not significance difference in the Han and Kazak population.The polymorphism of eNOS 27bp VNTR may not be associated with essential hypertension in Kazakh and Han population of Xinjiang.