CARDIAC SODIUM-CHANNEL MUTATIONS IN PATIENTS WITH LONG QT SYNDROME, AN INHERITED CARDIAC-ARRHYTHMIA
CARDIAC SODIUM-CHANNEL MUTATIONS IN PATIENTS WITH LONG QT SYNDROME, AN INHERITED CARDIAC-ARRHYTHMIA
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DOI：
10.1093/hmg/4.9.1603
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发表时间：
1995-09-01
影响因子：
3.5
通讯作者：
KEATING, MT
中科院分区：
文献类型：
--
作者：
WANG, Q;SHEN, JX;KEATING, MT
长QT综合征（LQT）是一种遗传性心脏疾病，可引起晕厥、癫痫发作和室性快速性心律失常导致的猝死。我们使用单链构象多态性（SSCP）和DNA序列分析，以确定在心脏钠通道基因，SCN 5A，在四个LQT家族的成员受影响的突变。这些突变包括两个相同的基因内缺失和两个错义突变。这些数据表明SCN 5A突变导致LQT。这些突变的位置和特征表明，这种形式的LQT是由心脏钠通道快速失活延迟或失活的电压依赖性改变引起的。
Long QT syndrome (LQT) is an inherited cardiac disorder that causes syncope, seizures and sudden death from ventricular tachyarrhythmias. We used single-strand conformation polymorphism (SSCP) and DNA sequence analyses to identify mutations in the cardiac sodium channel gene, SCN5A, in affected members of four LQT families. These mutations include two identical intragenic deletions and two missense mutations. These data suggest that SCN5A mutations cause LQT. The location and character of these mutations suggest that this form of LQT results from a delay in cardiac sodium channel fast inactivation or altered voltage-dependence of inactivation.