中文摘要：

研究新疆哈萨克族原发性高血压（EH）患者胱硫醚β-合成酶（CBS）基因多态性与EH的关系。采用整群抽取随机抽样的方式,以新疆沙湾县733名哈萨克族人（EH组366人,对照组367人）为研究对象,进行流行病学调查和临床检查,并采集血样,采用SnaPshot技术进行基因分型。结果显示：CBS rs719037基因型及等位基因在EH组和对照组分布差异无显著性（P〉0.05）;CBS rs719038基因型及等位基因在EH组和对照组分布差异无显著性（P〉0.05）。结论新疆哈萨克族人群中存在CBS基因rs719038、rs719037多态性位点。同时rs719038、rs719037位点与EH缺乏关联。

英文摘要：

We investigate the relationship between gene polymorphisms in the cystathionine β-synthase（CBS） with essential hypertension（EH） in the Kazakh population.Based on the case-control study,we selected 733（366 EH,367 controls） Kazakh from the Boertonggu countryside of Shawan region in Xinjiang Uygur Autonomous Region of China by random cluster sampling.After questinnaires and physical examinations,we collected blood.The polymorphisms of CBS in the studygrops were detected with SnaPshot assays.The results showed the frequencies of genotypes and alleles of rs719037 had no differences between EH and contrl group（P0.05）;there was no difference in the genotypes and alleles of rs719038 between EH and contrl group.（P0.05）.The conclusions was that there were polymorphisms at rs719038 and rs719037 of CBS gene,but there was a lack of associated with EH in the Kazakh of Xinjiang.