原发性高血压遗传机制研究:全线粒体基因变异扫描分析  

Study on the genetic mechanism of essential hypertension: scanning analysis of the entire mitochondrial gene variations

作　　者：刘玲玲[1] 谭端军[1] 徐斌[1] 薛桥[1] 王士雯[1] 

机构地区：[1]解放军总医院老年心血管研究所,北京市100853

出　　处：《中国临床康复》2004年第12期2271-2273,共3页Chinese Journal of Clinical Rehabilitation

基　　金：解放军总医院院长基金资助(03YZJJ005)~~

摘　　要：目的:扫描分析原发性高血压患者全线粒体基因变异,探讨其在高血压发病中的可能作用,为高血压的防治提供理论依据。方法:抽提原发性高血压患者和正常血压人群DNA各20例,用32对交叉重叠引物扩增全部线粒体基因,时相温度梯度变性凝胶电泳扫描基因变异,直接测序明确变异基因并进行两组间的比对分析。结果:原发性高血压患者与正常血压人群比较具有线粒体基因高变异频率(分别为27例次/例和20.3例次/例,t=2.05,P=0.047)、高变异密度(分别为3.28/100bp和2.46/100bp,t=2.05,P=0.047)的特点;高血压组D环区的变异密度及tRNA区的变异比例(24.87和10.56)明显高于正常血压组犤19.07(t=2.633,P=0.012)和5.67(χ2=6.54,P=0.009)犦。结论:原发性高血压患者具有线粒体基因高变异频率及高变异密度的特点,变异的基因可能通过影响线粒体氧化磷酸化功能而在高血压的发病中发挥一定的作用。AIM:To screen the mitochondrial DNA (mtDNA) variations in patients with hypertension, and to explore its possible role in the pathogenesis, so as to provide theoretical evidence for the prevention and treatment of hypertension. METHODS:DNA from the hypertensive and the normotensive(20 cases, each) was extracted. The entire genome of mtDNA was amplified by using 32 overlapping primers. mtDNA variations were screened by temporal temperature gradient gel electrophoresis and sequenced directly, and comparative analysis was performed between the two groups. RESULTS:Compared with the normotensive,the hypertensive harbored more mtDNA varirations both in frequency(respectively 27/case and 20.3/case,t=2.05,P=0.047) and density (respectively 3.28/100 bp and 2.46/100 bp,t=2.05,P=0.047).The variation density in the D loop region and variation percentage in tRNA region were significantly higher in the hypertensive(24.87 and 10.56)than in normotensive[19.07,(t=2.633 P=0.012); and 5.67(P=0.009,χ2=6.54)].Patients with hypertension have higher frequency and density in mtDNA variations than the normotensive.The mtDNA variations may be involved in the pathogenesis of hypertension through interference with the mitochondrial oxidative phosphorylati

关 键 词：原发性高血压 遗传机制 线粒体 基因变异 预防 康复 

分 类 号：R544.1[医药卫生—心血管疾病] R394[医药卫生—内科学]