[Mutation analysis of a Chinese family with inherited long QT syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 22(1): 68-70, 2005 Feb.
Article
em Zh
| MEDLINE
| ID: mdl-15696484
ABSTRACT
OBJECTIVE:
To identify the mutation of a Chinese family with inherited long QT syndrome(LQTS).METHODS:
The disease-causing gene was tentatively determined in light of the clinical manifestations and electrophysiological properties, and then polymerase chain reaction and DNA sequencing were used for screening and identifying mutation.RESULTS:
A missense mutation G940A(G314S) in the KCNQ1 gene was identified, which was the 'hot spot' of long QT syndrome mutation.CONCLUSION:
The mutation that is involved with long QT syndrome in Chinese patients is the same as that in the European, American and Japanese patients.
Buscar no Google
Base de dados:
MEDLINE
Assunto principal:
Síndrome do QT Longo
/
Mutação de Sentido Incorreto
/
Canal de Potássio KCNQ1
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Male
País como assunto:
Asia
Idioma:
Zh
Ano de publicação:
2005
Tipo de documento:
Article