Analysis of dystrophin gene deletions by multiplex PCR in eastern India.
Neurol India
;
2006 Sep; 54(3): 310-1
Artigo
em Inglês
| IMSEAR
| ID: sea-120084
ABSTRACT
The most common genetic neuromuscular disease of childhood, Duchenne and Becker muscular dystrophy (DMD/BMD) is caused by deletion, duplication or point mutation of the dystrophin gene located at Xp 21.2. In the present study DNA from seventy unrelated patients clinically diagnosed as having DMD/BMD referred from different parts of West Bengal, a few other states and Bangladesh are analyzed using the multiplex polymerase chain reaction (m-PCR) to screen for exon deletions and its distribution within the dystrophin gene. Out of seventy patients forty six (63%) showed large intragenic deletion in the dystrophin gene. About 79% of these deletions are located in the hot spot region i.e, between exon 42 to 53. This is the first report of frequency and distribution of deletion in dystrophin gene in eastern Indian DMD/BMD population.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Feminino
/
Humanos
/
Masculino
/
RNA Mensageiro
/
Reação em Cadeia da Polimerase
/
Éxons
/
Distrofina
/
Deleção de Genes
/
Idade de Início
/
Distrofia Muscular de Duchenne
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Neurol India
Ano de publicação:
2006
Tipo de documento:
Artigo
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