新疆哈萨克族人β_2-肾上腺素受体基因G(-1023)A多态性与高血压的关联分析  

Association analysis of β_2-adrenergic receptor polymorphisms with hypertension in Xinjiang Kazakh

作　　者：张丽萍[1] 汪师贞[2] 赵学信[1] 陈健刚[3] 夏米西努尔.伊力克 

机构地区：[1]新疆医科大学基础医学院生物化学教研室,新疆乌鲁木齐830054 [2]新疆医科大学第一附属医院心内科,新疆乌鲁木齐830054 [3]新疆医科大学基础医学院生物学教研室,新疆乌鲁木齐830054

出　　处：《新疆医科大学学报》2007年第1期29-32,共4页Journal of Xinjiang Medical University

摘　　要：目的探讨新疆哈萨克族人β2-肾上腺素受体(β2-AR)基因G(-1023)A多态性与原发性高血压的关系。方法用直接测序法对β2-AR基因进行测序,寻找和验证单核苷酸多态性(SNP)在哈萨克族高血压群体中的存在;应用多聚酶链反应、限制性片段长度多态性技术(PCR-RFLP)对新疆哈萨克族人β2-AR基因编码区起始点上游1023(-1023)位点进行基因分型。结果(1)在β2-AR基因调控区-1023位点存在一高频SNP;(2)β2-AR基因-1023位点多态基因型频率在该群体中分布符合Hardy-Weinberg平衡;(3)该位点各基因型频率和等位基因频率在哈萨克族高血压组和正常对照组的分布差异均有统计学意义(P<0.05)。结论β2-AR基因-1023位点多态性可能与新疆哈萨克族人高血压相关。Objective： To investigate the relationship of polymorphism of β2-adrenergic receptor （β2-AR） gene with essential hypertension （EH） of Kazakh in Xinjiang, Search the distribution of β2-AR genotype frequency in Kazakh. Methods： The sequence of the β2-AR gene promoter was detected for identifying SNP in Kazakh group. The segment of β2-AR was amplified from DNA by polymerase chain reaction （PCR）. The PCR products were digested by restriction endonuclease. Results： （1） -1023 polymorphism with highly frequency was found in β2-AR promotor. （2） The genotypes of the variants were found to be in Hardy- Weinberg equilibrium in Kazakh groups. （3） The frequency of genotype in EH group was significantly different from that in NT group in Kazakh population （P 〈0.05）. Conclusion： The results suggested that the -1023 polymorphism of β2-AR gene might be associated with hypertension with Kazakh groups.

关 键 词：高血压病 β2-肾上腺素受体基因 哈萨克族 单核苷酸多态性 

分 类 号：R392[医药卫生—免疫学]