【摘要】 目的探讨新疆汉族和哈萨克族内皮型一氧化氮合酶基因G894T、T786C多态性与原发性高血压的相关性。方法选取新疆塔城地区哈萨克族高血压患者363人和正常血压者370人,选取汉族高血压患者346人,正常血压者385人,运用多重单碱基延伸分型技术进行内皮型一氧化氮合酶基因G894T、T786C多态性分析,阐明两民族基因型、等位基因频率分布、连锁不平衡模式及构建的单体型与原发性高血压的相关性。结果超重、肥胖、甘油三酯异常及年龄51岁以上是两民族患高血压的共同相关危险因素。总人群、原发性高血压组及正常血压组中两民族内皮型一氧化氮合酶基因G894T、T786C位点等位基因频率分布差异均有统计学意义(P<0.05),两位点间不存在强连锁不平衡。汉族和哈萨克族人群内皮型一氧化氮合酶基因两位点共构成4种单体型:GT(75.3%和79.6%)、GC(10.8%和10.5%)、TT(5.7%和9.8%)及TC(8.2%和0.1%)。两民族单体型频率分布最高为GT,汉族和哈萨克族人群单体型频率分布最低分别是TC、TT,且两民族间单体型GT、TT、TC频率分布差异有统计学意义(P<0.05)。结论新疆汉族和哈萨克族人群内皮型一氧化氮合酶基因G894T、T786C位点多态可能与原发性高血压不相关。更多还原

【Abstract】 Aim To investigate the association of the G894T,T786C polymorphism of the endothelial nitric synthase(eNOS) gene with essential hypertension(EH) in the Han and Kazakh populations in Xinjiang.Methods Based on the case-control study,346 patients with essential hypertension(EH group)and 385 healthy people(NT group)in Han Chinese population,and 363 patients with essential hypertension(EH group)and 370 healthy people(NT group)in the Kazakh population were selected from Tacheng Region of China by random cluster sample.After physical examination and questionnaire,blood samples were selected,the G894T,T786C polymorphisms of eNOS gene were detected with SNaPshot system.Genotype frequency,allele frequency,linkage disequilibrium(LD)and haplotypes were calculated and compar-ed.Results Overweight,obesity,triglycerides disorder,age 51 and over are risk factors of EH in Han and Kazakh populations.Distribution of allele frequencies G894T,T786C polymorphism of eNOS gene,the total population in EH and NT group are significantly different between two ethnic(P<0.05).G894T and T786C polymorphism do not have strong LD.It constituted four kinds of haplotypes of GT(75.3% and 79.6%),GC(10.8% and 10.5%),TT(5.7% and 9.8%),TC(8.2% and 0.1%) in Han and Kazakh populations.The maximum distribution of haplotypes frequencies was GT in two ethnic,and the minimum are TC(Han),TT(Kazakh).The formation of haplotypes(GT,TT,TC) frequency was significantly different between two ethnic(P<0.05).Conclusions The polymorphism of eNOS gene G894T,T786C may not be associated with the essential hypertension in the Han and Kazakh populations in XinJiang.更多还原