ATM gene mutations in Chinese patients with ataxia telangiectasia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 121-124, 2005.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-321144
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the mutation characteristics of ATM gene in Chinese patients with ataxia-telangiectasia (AT).</p><p><b>METHODS</b>Mutation of ATM gene was screened by polymerase chain reaction, reverse transcription-polymerase chain reaction, polyacrylamide gel electrophoresis combined with DNA direct sequencing in two Chinese AT patients.</p><p><b>RESULTS</b>A missense mutation of 1346(G>C) in exon 11, which was a homozygotic mutation, was identified in one patient; a nonsense mutation of 610 (G>T) in exon 6 combined with a missense mutation of 6679 (C>T) in exon 47, which was a compound heterozygotic mutation, were identified in the other patient. They were co-segregated with the disease and were localized within the functional domain of ATM gene.</p><p><b>CONCLUSION</b>Totally three novel ATM gene mutations were identified in two Chinese AT patients.</p>
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Análise Mutacional de DNA
/
Sequência de Bases
/
China
/
Proteínas Serina-Treonina Quinases
/
Códon sem Sentido
/
Proteínas de Ciclo Celular
/
Reação em Cadeia da Polimerase Via Transcriptase Reversa
/
Mutação de Sentido Incorreto
/
Ataxias Espinocerebelares
/
Proteínas Supressoras de Tumor
Tipo de estudo:
Estudo prognóstico
Limite:
Criança
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2005
Tipo de documento:
Artigo