CAJ | 학술논문

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。
목적：：고혈압시유유전화배경인소공동작용이인기적복잡성질병,본연구예탐토PRKG1기인비편마구다태재몽고족원발성고혈압중적작용。방법：채집내몽고자치구석림곽륵맹몽고족표본429례,기중고혈압212례,정상혈압자217례。대 PRKG1기인적계동자화3’비번역구진행측서후대돌변위점진행기인분형。결과：PRKG1기인측서공발현3개돌변위점,분별시 PRKG1-1,PRKG1-2화 PRKG1-3。재몽고족인군중, PRKG1기인적PRKG1-2화PRKG1-3위점각검측도A등위기인화AA기인형,미검측도령일등위기인화화기대응적기인형,PRKG1-1위점적등위기인빈솔화기인형빈솔재고혈압조화정상대조조간차이무통계학의의。결론：PRKG1기인계동자화3’비번역구다태여몽고족원발성고혈압무명현상관성。
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 HapMap 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.