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篇目详细内容 |
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【篇名】 |
Mutation analysis of KCNQ1, KCNH2, SCN5A, KCNE1 and KCNE2 genes in Chinese patients with long QT syndrome |
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【刊名】 |
Frontiers of Medicine in China |
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【刊名缩写】 |
Front. Med. China |
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【ISSN】 |
1673-7342 |
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【EISSN】 |
1673-7458 |
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【DOI】 |
10.1007/s11684-007-0060-0 |
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【出版社】 |
Higher Education Press and Springer-Verlag |
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【出版年】 |
2007 |
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【卷期】 |
1
卷3期 |
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【页码】 |
312-315
页,共
4
页 |
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【作者】 |
DU Rong;
TIAN Li;
YUAN Guohui;
LI Jin;
REN Faxin;
GUI Le;
LI Wei;
ZHANG Shouyan;
KANG Cailian;
YANG Junguo;
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【关键词】 |
Long QT syndrome; mutation; KCNQ1; Lange-Nielsen syndrome; Romano-ward syndrome |
【摘要】 |
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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 KCNQ1, KCNH2, KCNE1, KCNE2 and SCN5A mutation. A missense mutation G314S in an RWS family was identified, and a single nucleotide polymorphism (SNP) G643S was indentified in the KCNQ1 of the JLNS family. In this JLNS family, another heterozygous novel mutation in exon 2a was found in KCNQ1 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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