[Relationship between congenital long QT syndrome and Brugada syndrome gene mutation].
Zhongguo Yi Xue Ke Xue Yuan Xue Bao
; 27(3): 289-94, 2005 Jun.
Article
em Zh
| MEDLINE
| ID: mdl-16038262
ABSTRACT
OBJECTIVE:
To investigate the molecular pathology in families with long QT syndrome (LQTS) including Jervell-Longe-Nielsen syndrome (JLNS) and Romano-ward syndrome (RWS) and Brugada syndrome (BS) in Chinese population.METHODS:
Polymerase chain reaction and DNA sequencing were used to screen for KCNQ1, KCNH2, KCNE1, and SCN5A mutation.RESULTS:
We identified a novel mutation N1774S in the SCN5A gene of the BS family, a novel mutation G314S in a RWS family which had also been found in Europe, North America, and Japan, and a single nucleotide polymorphisms (SNPs) G643S 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.CONCLUSION:
New mutations were found in our experiment, which expand the spectrum of KCNQ1 and SCN5A mutations that cause LQTS and BS.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome do QT Longo
/
Síndrome de Jervell-Lange Nielsen
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Canal de Potássio KCNQ1
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Mutação
Limite:
Adolescent
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Adult
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Female
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Humans
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Male
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Middle aged
Idioma:
Zh
Ano de publicação:
2005
Tipo de documento:
Article