论文部分内容阅读
目的探讨一例母系家族遗传性高血压家系发病特点,为探讨高血压病的遗传机制与防治对策提供一定的理论依据。方法以2015年6月在江苏省苏北人民医院心血管内科住院的1例高血压病患者为先证者,实地调查得到高血压病遗传家系,抽取家系成员外周静脉血,对序列3777~4679位置的线粒体DNA(mt DNA)进行直接基因测序,然后进行线粒体基因分析。结果该家系母系成员高血压病发病率高,发病年龄显著提前,所有母系成员的mt DNA发生了8414位C>T突变。结论高血压家族遗传与线粒体基因突变相关,具有家族聚集倾向。
Objective To investigate the incidence of familial hereditary hypertension in a pedigree and to provide some theoretical basis for exploring the genetic mechanism and prevention and cure of hypertension. Methods One Hypertensive patient admitted to Department of Cardiology, Subei People’s Hospital of Jiangsu Province in June 2015 was a proband. Hypertension genetic families were obtained from field surveys. Peripheral venous blood samples were drawn from families 3777 to 4679 The mitochondrial DNA (mt DNA) was sequenced directly and then subjected to mitochondrial gene analysis. Results The maternal members of this pedigree had a high incidence of hypertension and a significantly earlier age of onset. The 8414 C> T mutation occurred in mt DNA of all maternal members. Conclusion Hypertensive familial heredity is associated with mitochondrial gene mutation and has familial aggregation tendency.