Multidisciplinary Studies on Molecular Pathogenesis of Inherited Primary Arrhythmia Syndromes

自1996年以来，我们收集了详细的临床数据和基因组的心血管问题，特别是与遗传性原发性心律失常综合征（IPAS）的患者。我们已经登记了约3，500个病例（约1，700个家庭），并进行了基因检测。对于先天性长QT综合征的先证者，超过一半的人可以被识别，对于Brugada综合征，约10%的人被识别出具有SCN 5A突变。然而，所有鉴定的遗传变异不一定都是致病性的。基于多学科的方法，包括通过膜片钳方法或计算机模拟技术对突变通道进行功能测定，我们可以评估IPAS的基因型-表型关系。

Since 1996, we have collected both detailed clinical data and genome from patients with cardiovascular problems, especially with inherited primary arrhythmia syndromes (IPAS). We have registered ~3,500 cases (~1,700 families) and conducted genetic testing. As to probands with congenital long QT syndrome, more than half of them could be identified, as to those with Brugada syndrome, ~10% was identified to have SCN5A mutations. However, all the identified genetic variants were not necessarily pathogenic. Based on multidisciplinary approaches, including functional assay of mutant channels by patch-clamp method or computer simulation technique, we could evaluate the genotype-phenotype relation in regard to IPAS.