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.
Artículo
en Inglés
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Polimorfismo Genético
/
Síndrome de QT Prolongado
/
Análisis Mutacional de ADN
/
Canales de Sodio
/
Transactivadores
/
Mutación del Sistema de Lectura
/
Canales de Potasio con Entrada de Voltaje
/
Canal de Potasio KCNQ1
/
Canales de Potasio Éter-A-Go-Go
/
Canal de Potasio ERG1
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
/
Estudio de tamizaje
Límite:
Adolescente
/
Adulto
/
Niño
/
Femenino
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Annals of the Academy of Medicine, Singapore
Año:
2007
Tipo del documento:
Artículo
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