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

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.