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2007年 第1卷 第3期

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《医学前沿（英文）》 >> 2007年 第1卷 第3期 doi: 10.1007/s11684-007-0060-0

Mutation analysis of KCNQ1, KCNH2, SCN5A, KCNE1 and KCNE2 genes in Chinese patients with long QT syndrome

1.Department of Rheumatology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China; 2.Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China;

发布日期： 2007-09-05
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Long QT syndrome (LQTS) is the prototype of the cardiac ion channelopathies, which cause syncope and sudden death. Inherited LQTS is represented by the autosomal dominant Romano-ward syndrome (RWS), which is not accompanied by congenital deafness, and the autosomal recessive Jervell and Lange-Nielsen syndrome (JLNS), which is accompanied by congenital deafness. The LQTS-causing mutations have been reported in patients and families from Europe, North America and Japan. Few genetic studies have been carried out in families with JLNS from China. This study investigates the molecular pathology in four families with LQTS (including a family with JLNS) in the Chinese population. Polymerase chain reaction and DNA sequencing were used to screen for , , , and mutation. A missense mutation G314S in an RWS family was identified, and a single nucleotide polymorphism (SNP) G643S was indentified in the of the JLNS family. In this JLNS family, another heterozygous novel mutation in exon 2a was found in of the patients. Our data provide useful information for the identification of polymorphisms and mutations related to LQTS and the Brugada Syndrome (BS) in Chinese populations.

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