Denaturant gradient gel electrophoresis in the genetic diagnosis of hereditary multiple exostoses / 中南大学学报(医学版)
Journal of Central South University(Medical Sciences)
; (12): 323-327, 2007.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-813884
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To detect the mutations of EXT2 gene in hereditary multiple exostoses (HME) families and to investigate the sensitivity of denaturant gradient gel electrophoresis (DGGE) in screening the mutations in EXT2 gene.@*METHODS@#Five HME families and 3 sporadic patients were screened for the mutation detection in all exons of EXT2 gene covering the coding sequence and the flanking intronic sequence by DGGE, and DNA sequencing was performed for products with abnormal conformation.@*RESULTS@#Among these HME patients, we found 2 disease-causing mutations A313T (nonsense mutation) and 319 insGT (frameshift mutation).@*CONCLUSION@#Two mutations of EXT2 gene are identified in the sample. DGGE can be an ideal choice for gene diagnoses of HME.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Análise Mutacional de DNA
/
Sequência de Bases
/
Exostose Múltipla Hereditária
/
Éxons
/
Genes Supressores de Tumor
/
N-Acetilglucosaminiltransferases
/
Diagnóstico
/
Eletroforese em Gel de Poliacrilamida
/
Genética
/
Métodos
Tipo de estudo:
Estudo diagnóstico
Limite:
Adolescente
/
Adulto
/
Criança
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Journal of Central South University(Medical Sciences)
Ano de publicação:
2007
Tipo de documento:
Artigo