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先天性长QT综合征(LQTS)是一类遗传性心律失常,现已发现12种不同基因的突变与LQTS相关。在中国长QT综合征Ⅱ型(LQT2)是一种最常见的LQTS,其发生率占LQTS的54.5%。先天性LQT2由hERG基因突变所致。hERG基因编码心脏快速激活延迟整流钾电流(IKr)通道的α亚基,hERG基因的突变可使IKr通道外向钾电流减少,QT间期延长。本文主要从hERG基因的突变机制,基因的检测和其与miRNA的关系等方面进行阐述。
Congenital Long QT Syndrome (LQTS) is a type of inherited arrhythmia and mutations of 12 different genes have been found to be associated with LQTS. In China, Long QT Syndrome Type II (LQT2) is one of the most common forms of LQTS, accounting for 54.5% of LQTS. Congenital LQT2 caused by hERG gene mutation. The hERG gene encodes the α subunit of the delayed rectifier potassium channel (IKr), which is activated by rapid cardiac activation. The mutation of hERG gene can reduce the IKr channel outward potassium current and prolong the QT interval. This article mainly from the hERG gene mutation mechanism, the detection of genes and their relationship with the miRNA and so on.