论文部分内容阅读
利用遗传连锁分析及基因定位克隆等技术,发现了心房颤动(简称房颤)的多种离子通道致病基因,主要为编码心肌细胞不同电生理特性的钾离子通道基因,包括KCNQ1、KCNE家族、KCNJ2、KCNH2以及KCNJ5基因的变异。同时,还发现钠通道基因SCN5A以及钙离子释放钙通道RyR2基因变异也与房颤的发生有一定的因果关系。这些研究结果初步揭示了遗传因素在房颤病因学中的重要作用。
Using genetic linkage analysis and gene mapping and cloning techniques, a variety of ion channel pathogenic genes of atrial fibrillation (Atrial Fibrillation) were found. They are mainly potassium ion channel genes that encode different electrophysiological properties of cardiomyocytes, including KCNQ1, KCNE family, KCNJ2, KCNH2 and KCNJ5 gene mutations. At the same time, also found that sodium channel gene SCN5A and calcium release of calcium channel RyR2 gene mutation also has a causal relationship with the occurrence of atrial fibrillation. These findings preliminary revealed the genetic factors in the etiology of atrial fibrillation in an important role.