Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
复制标题
DOI：
10.1038/ng0196-17
复制
发表时间：
1996-01-01
期刊：
影响因子：
30.8
通讯作者：
Keating, MT
中科院分区：
文献类型：
--
作者：
Wang, Q;Curran, ME;Keating, MT
遗传因素导致心律失常猝死的风险。在这里，定位克隆方法建立KVLQT1作为染色体11连锁LQT1基因负责最常见的遗传性心律失常。KVLQT1在心脏中强烈表达，并编码具有电压门控钾通道结构特征的蛋白质。KVLQT1突变存在于16个心律失常家族的受累成员中，包括一个基因内缺失和10个不同的错义突变。这些数据将KVLQT1定义为一种新的心脏钾通道基因，并表明该基因的突变导致室性快速性心律失常和猝死的易感性。
Genetic factors contribute to the risk of sudden death from cardiac arrhythmias. Here, positional cloning methods establish KVLQT1 as the chromosome 11-linked LQT1 gene responsible for the most common inherited cardiac arrhythmia. KVLQT1 is strongly expressed in the heart and encodes a protein with structural features of a voltage-gated potassium channel. KVLQT1 mutations are present in affected members of 16 arrhythmia families, including one intragenic deletion and ten different missense mutations. These data define KVLQT1 as a novel cardiac potassium channel gene and show that mutations in this gene cause susceptibility to ventricular tachyarrhythmias and sudden death.