KCNQ1和KCNH2基因与家族性阵发性房室交界折返性心动过速的关系

THE ASSOCIATION OF GENE KCNQ1 AND KCNH2 WITH FAMILIAL PAROXYSMAL ATRIOVENTRICULAR JUNCTIONAL REENTRANT TACHYCARDIA

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 KC-NQ1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 ;而 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。

Objective:To investigate the association between gene mutations of ion channel gene KCNQ1 and KCNH2 and familial paroxysmal atrioventricular junctional reentrant tachycardia (FPAVJRT).Method: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. Additionally, three mutations were identified in introns of KCNH2 gene. Conclusion: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 promoted FPAVJRT.