新疆哈萨克族β_2肾上腺素能受体基因G252A和C523T多态性与原发性高血压的关系  

The relationship between the G252A and C523T polymorphisms of β_2-adrenergic receptor gene and essential hypertension in Kazakh of Xinjiang

作　　者：李南方[1] 刘克坚[1,2] 周玲[1] 胡君丽[1] 刘辉[1] 

机构地区：[1]新疆维吾尔自治区人民医院高血压科新疆高血压研究所,830001 [2]石河子大学

出　　处：《国际心血管病杂志》2009年第2期116-119,共4页International Journal of Cardiovascular Disease

基　　金：国家自然科学基金(30260038);新疆维吾尔自治区科技攻关和重点科技项目(200333115A)

摘　　要：目的:探讨β2肾上腺素能受体(β2-AR)基因G252A和C523T单核苷酸多态性(SNPs)与新疆哈萨克族原发性高血压(EH)的相关性。方法:采用多聚酶链式反应-限制性酶切片段长度多态性技术(PCR-RFLP),对新疆哈萨克族人进行β2-AR基因G252A、C523T多态性检测,观察G252A与C523T各等位基因、基因型和联合基因型在EH组和正常血压(NT)组中的分布,分析其与该民族高血压的关系。结果:新疆哈萨克族人存在G252A多态及AA、AG、GG3种基因型和C523T多态及TT、TC、CC3种基因型,各基因型在研究人群中的分布均符合Hardy-Weinberg平衡。两位点6种基因型和4种等位基因频率在EH组和NT组间的分布均无统计学差异((P>0.05)。对G252A的GG基因型、C523T的CC基因型组成联合基因型与其他基因型总和进行分析,在收缩压、舒张压、平均动脉压水平方面差异均无统计学意义(P>0.05)。结论:新疆哈萨克族人β2-AR基因存在G252A与C523T多态性,但这两种多态性可能与哈萨克族高血压不相关。Objective：To investigate the association between the G252A and C523T single nu- c/eotide polymorphisms （SNPs） of beta 2-adrenergic receptor （β2-AR） gene with essential hyperten- sion in Kazakh of Xinjiang. Methods： Polymerase chain reaction and restriction fragment length pol-ymorphism （PCR-RFLP） methods were used to detect the SNPs of G252A and C523T inβ2-AR gene in Kazakhs. The differences of distributions of genotypes, alleles, and the united genotypes of these two SNPs between patients with essential hypertension and individuals with normal blood pres- sure were analyzed by Chi square. Results：There were G252A and C523T SNPs in β2-AR gene of Kazakhs in Xinjiang. We detected three kinds of genotypes （AA, AG, GG） and two kinds of alleles （A, G） at position G252A and three kinds of genotypes （TT, TC, CC） and two kinds of alleles （T, C） at position C523T. The distribution of genotypes of two kinds of polymorphisms was consistent with Hardy-Weinberg equillibrium. The distribution of genotypes and alleles to these two kinds of polymorphisms was not significantly different between essential hypertension group and normal blood pressure group. G252A GG genotype and C523T CC united genotype groups were not statistically different in levels of systolic pressure, diastolic pressure, mean blood pressure from other genotype groups （P〉0.05）. Conclusion：G252A and C523T genetic polymorphisms were found, but they were not related to essential hypertension in Kazakh of Xinjiang.

关 键 词：原发性高血压 哈萨克族 Β2肾上腺素能受体 基因 单核苷酸多态性 

分 类 号：R544.1[医药卫生—心血管疾病]