KCNQ1和KCNH2基因与家族性猝死的关系

Relationship between Ion Channel Genes KCNQ1, KCNH2 and Familial Sudden Death

目的 分析离子通道基因KCNQ1和KCNH2与家族性猝死 (familialsuddendeath ,FSD)的关系 ,以探讨其分子遗传机制。方法 在 1个FSD大家系中 ,利用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 4种突变 ,其中 3个位于外显子区域 ,但均为同义突变 ,另外 1个位于内含子区域 ;而KCNH2基因未发现突变。结论 在该FSD家系中 ,KCNQ1基因存在 4种突变 ,但均为非致病突变 ,KCNH2基因无突变发生 ;KCNQ1和KCNH2基因以外的基因可能才是FSD致病基因。

Objective To ascertain the relation of ion channel genes KCNQ1 and KCNH2 to familial sudden death (FSD), so as to explore the molecular genetic mechanism by which such disease might occur.Methods In a large family affected with sudden death, PCR DNA direct sequencing was performed to screen all exons and their flanking introns of genes KCNQ1 and KCNH2 for mutations.Results In this family, 4 mutations were identified in gene KCNQ1, 3 of those were located in exons, but they all were nonsense mutation; and the other one, in introns. Incidentally, no mutation was observed in gene KCNH2.Conclusion Genes KCNQ1 and KCNH2 may not be responsible for FSD, although there exist polymorphisms in ion channel gene KCNQ1. A certain gene or more other than KCNQ1 and KCNH2 genes might contribute to FSD.