A novel mutation of the KCNH2 gene in a family with congenital long QT syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 77-80, 2010.
Artigo
em Chinês
| WPRIM
| ID: wpr-349034
ABSTRACT
<p><b>OBJECTIVE</b>To perform mutation analysis in a family with long QT syndrome.</p><p><b>METHODS</b>The medical record of the affected child and his parents were collected. The locus of gene associated with the long QT syndrome was mapped by linkage analysis. Mutation analysis was done by PCR-single strand conformation polymorphism (SSCP) and direct sequencing.</p><p><b>RESULTS</b>A mutation (L539fs/47) and a SNP (L564L) were found in exon 7 of the KCNH2 gene of the proband. The mutation was from the father.</p><p><b>CONCLUSION</b>A novel mutation of L539fs/47 in the KCNH2 gene was identified in the LQTS family, which might be the disease-causing mutation for the family.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Síndrome do QT Longo
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Mutação da Fase de Leitura
/
Polimorfismo de Nucleotídeo Único
/
Canais de Potássio Éter-A-Go-Go
/
Canal de Potássio ERG1
/
Genética
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2010
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS