Detection of DMD gene deletions in Thai children patients.
Southeast Asian J Trop Med Public Health
;
1995 ; 26 Suppl 1(): 172-4
Artigo
em Inglês
| IMSEAR
| ID: sea-31794
ABSTRACT
For the dystrophin gene, it has been shown that about 65% of DMD/BMD patients have detectable deletions. The majority of deletions are clustered in exons 45-53 and at the 5' terminus. We studied 14 X-linked muscular dystrophy (DMD) Thai child patients for detection of gene deletions by amplification of nine exons plus the promoter of the dystrophin gene in two multiplex polymerase chain reactions that included hot spot region (exons 45-53 and 5' terminus). There were 8 DMD patients who had incomplete gene deletion and most of the deletions were around exon 49. PCR-base assays will allow deletion detection from dry blood spot samples and prenatal diagnosis.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Tailândia
/
Cromossomo X
/
Biópsia
/
Humanos
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Criança
/
Pré-Escolar
/
Reação em Cadeia da Polimerase
/
Éxons
Tipo de estudo:
Estudo diagnóstico
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Southeast Asian J Trop Med Public Health
Ano de publicação:
1995
Tipo de documento:
Artigo
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