PRKG1基因非编码区多态与蒙古族原发性高血压的易感性研究  

THE SUSCEPTIBILITY STUDIES OF NON-CODING REGION VARIANTS OF PRKG1 GENE AND ESSENTIAL HYPERTENSION IN MONGOLIAN POPULATION

作　　者：常培叶[1] 赵平 刘志跃[3] 秦莉[3] 

机构地区：[1]内蒙古医科大学附属医院核医学科,内蒙古呼和浩特010050 [2]内蒙古自治区人民医院心内科 [3]内蒙古医科大学病理生理学教研室

出　　处：《内蒙古医科大学学报》2015年第2期148-151,共4页Journal of Inner Mongolia Medical University

基　　金：教育部科学技术研究重点项目(212026)

摘　　要：目的:高血压是由遗传和环境因素共同作用而引起的复杂性疾病,本研究预探讨PRKG1基因非编码区多态在蒙古族原发性高血压中的作用。方法:采集内蒙古自治区锡林郭勒盟蒙古族标本429例,其中高血压212例,正常血压者217例。对PRKG1基因的启动子和3’非翻译区进行测序后对突变位点进行基因分型。结果:PRKG1基因测序共发现3个突变位点,分别是PRKG1-1,PRKG1-2和PRKG1-3。在蒙古族人群中,PRKG1基因的PRKG1-2和PRKG1-3位点各检测到A等位基因和AA基因型,未检测到另一等位基因和和其对应的基因型,PRKG1-1位点的等位基因频率和基因型频率在高血压组和正常对照组间差异无统计学意义。结论:PRKG1基因启动子和3’非翻译区多态与蒙古族原发性高血压无明显相关性。Objective： Hypertension is a complex disease resulted from the interaction of genetic and environmental factors. We investigated the association between non- coding region variants of PRKG 1 gene and essential hypertension in Mongolian population in Xilin Gol League. Methods： Referring to the Chinese data in Hap Map project,we conducted a case- control study,which collected 429 Mongolian specimens,including 212 cases of high blood pressure and 217 cases of normal blood pressure. The promoter and 3＇ untranslated region of PRKG 1 gene was sequenced. The genotyping was performed using the polymerase chain reaction（ PCR） / Ligase detection reaction assay. Results： Three mutations were found in PRKG 1 gene sequencing,there are PRKG 1- 1,PRKG 1- 2 and PRKG 1-3 respectively. In the Mongolian population,PRKG 1- 2 and PRKG 1- 3 loci detected only A allele and AA genotype,and the others were not detected. The distribution of genotype and allele frequencies of PRKG 1- 1 were not significantly different between EH group and the control group. Conclusions：There was no significant correlation between promoter and 3 ＇ untranslated region polymorphism of PRKG 1 gene and essential hypertension in Mongolian population.

关 键 词：高血压 PRKG1基因 非编码区多态 

分 类 号：R544.1[医药卫生—心血管疾病]