【摘要】 目的:分析离子通道基因KCNQ1和KCNH2与家族性阵发性房室交界折返性心动过速(FPAVJRT)的关系,以探讨FPAVJRT发生的分子遗传机制。方法:在一个FPAVJRT大家系中,采用PCR直接测序技术,对KCNQ1和KCNH2基因的所有外显子和附近的部分内含子进行序列测定。 结果:KCNQ1基因存在5种突变,其中2个位于外显子区域,但均为同义突变,另外3个位于内含子区域;KCNH2基因存在3种突变,但均位于内含子区域。 结论:在该FPAVJRT家系中,KCNQ1和KCNH2基因存在8种突变,但均为非致病突变,提示KCNQ1和KCNH2基因以外的基因可能才是FPAVJRT致病基因。更多还原

【Abstract】 Objective:To investigate the relation between gene mutations of ion channel gene KCNQ1 and KCNH2 and familial paroxysmal atrioventricular junctional reentrant tachycardia (FPAVJRT). Methods:In a family with FPAVJRT, PCR- DNA direct sequencing were performed to screen the exons and their flanking introns of KCNQ1 and KCNH2 genes for mutations. Results: Within this family, we identified five mutations in KCNQ1 gene , and two of them were located in the area of exons, but they both were nonsense mutations and three mutations were located in the area of introns. Additionally, three mutations were identified in introns of KCNH2 gene. Conclusions: There exist polymorphisms in ion channel gene KCNQ1 and KCNH2, but they may not be what lead to FPAVJRT. A certain gene other than KCNQ1 and KCNH2 may promote FPAVJRT.更多还原