Mutation screening of the dystrophin gene in 14 Chinese Duchenne/Becker muscular dystrophy patients without gross deletions / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 633-636, 2008.
Artigo
em Chinês
| WPRIM
| ID: wpr-308004
ABSTRACT
<p><b>OBJECTIVE</b>To search for the dystrophin gene mutations of Duchenne muscular dystrophy (DMD) patients without gross deletions, in order to offer accurate genetic counseling and prenatal diagnosis for those families.</p><p><b>METHODS</b>All 79 exons of the dystrophin gene as well as its 5'-UTR and 3'-UTR of 14 Chinese DMD/Becker muscular dystrphy (BMD) patients without detectable gross deletions were screened by denaturing high performance liquid chromatography (DHPLC) and heteroduplex fragments were identified by subsequent sequencing.</p><p><b>RESULTS</b>Seven causative point mutations, including two novel ones, were detected in 7 patients. Fourteen known polymorphisms and 7 unknown intronic variations were also detected. Five mothers of the patients were obligate carriers.</p><p><b>CONCLUSION</b>DHPLC is an efficient way of identifying point mutations and the female carriers in DMD families.</p>
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DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Polimorfismo Genético
/
Diagnóstico Pré-Natal
/
Análise Mutacional de DNA
/
Sequência de Bases
/
Íntrons
/
Testes Genéticos
/
Éxons
/
Distrofina
/
Deleção de Sequência
/
Mutação Puntual
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
Limite:
Adolescente
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2008
Tipo de documento:
Artigo
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