Mutation screening in KCNQ1, HERG, KCNE1, KCNE2 and SCN5A genes in a long QT syndrome family
Annals of the Academy of Medicine, Singapore
;
: 394-398, 2007.
Artigo
em Inglês
| WPRIM
| ID: wpr-250809
ABSTRACT
<p><b>INTRODUCTION</b>Long QT syndrome (LQTS), an inherited cardiac arrhythmia, is a disorder of ventricular repolarisation characterised by electrocardiographic abnormalities and the onset of torsades de pointes leading to syncope and sudden death. Genetic polymorphisms in 5 well-characterised cardiac ion channel genes have been identified to be responsible for the disorder. The aim of this study is to identify disease-causing mutations in these candidate genes in a LQTS family.</p><p><b>MATERIALS AND METHODS</b>The present study systematically screens the coding region of the LQTS-associated genes (KCNQ1, HERG, KCNE1, KCNE2 and SCN5A) for mutations using DNA sequencing analysis.</p><p><b>RESULTS</b>The mutational analysis revealed 7 synonymous and 2 non-synonymous polymorphisms in the 5 ion channel genes screened.</p><p><b>CONCLUSION</b>We did not identify any clear identifiable genetic marker causative of LQTS, suggesting the existence of LQTS-associated genes awaiting discovery.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Polimorfismo Genético
/
Síndrome do QT Longo
/
Análise Mutacional de DNA
/
Canais de Sódio
/
Transativadores
/
Mutação da Fase de Leitura
/
Canais de Potássio de Abertura Dependente da Tensão da Membrana
/
Canal de Potássio KCNQ1
/
Canais de Potássio Éter-A-Go-Go
/
Canal de Potássio ERG1
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
/
Estudo de rastreamento
Limite:
Adolescente
/
Adulto
/
Criança
/
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Annals of the Academy of Medicine, Singapore
Ano de publicação:
2007
Tipo de documento:
Artigo
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