Mutation analysis of a Chinese family with inherited long QT syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 68-70, 2005.
Artigo
em Chinês
| WPRIM
| ID: wpr-321157
ABSTRACT
<p><b>OBJECTIVE</b>To identify the mutation of a Chinese family with inherited long QT syndrome(LQTS).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>A missense mutation G940A(G314S) in the KCNQ1 gene was identified, which was the 'hot spot' of long QT syndrome mutation.</p><p><b>CONCLUSION</b>The mutation that is involved with long QT syndrome in Chinese patients is the same as that in the European, American and Japanese patients.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Síndrome do QT Longo
/
Análise Mutacional de DNA
/
China
/
Reação em Cadeia da Polimerase
/
Saúde da Família
/
Predisposição Genética para Doença
/
Mutação de Sentido Incorreto
/
Diagnóstico
/
Canal de Potássio KCNQ1
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2005
Tipo de documento:
Artigo
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