Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome / 中华心血管病杂志
Chinese Journal of Cardiology
;
(12): 1122-1125, 2007.
Artigo
em Chinês
| WPRIM
| ID: wpr-299520
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the gene mutations on the cardiac sodium channel gene SCN5A in a Chinese family with Brugada syndrome.</p><p><b>METHOD</b>Polymerase chain reaction and DNA sequencing were used to screen gene mutations on the cardiac sodium channel gene SCN5A in all family members of a Chinese pedigree with Brugada syndrome, single strand conformation polymorphism analysis were performed in 136 normal controls to detect the mutations of SCN5A gene.</p><p><b>RESULT</b>Two heterozygosis mutations, which include a missense mutation (Y1494N) and a same sense mutation (A29A), were identified on SCN5A gene in the proband with Brugada syndrome and these mutations were not detected in other family members with Brugada syndrome and in controls.</p><p><b>CONCLUSION</b>We detected a reported polymorphism site (A29A) and a novel missense mutation (Y1494N) on SCN5A in this Chinese family with Brugada syndrome.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Canais de Sódio
/
Estudos de Casos e Controles
/
Polimorfismo Conformacional de Fita Simples
/
Povo Asiático
/
Síndrome de Brugada
/
Genética
/
Proteínas Musculares
/
Mutação
Tipo de estudo:
Estudo observacional
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Cardiology
Ano de publicação:
2007
Tipo de documento:
Artigo
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