Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy.
Indian J Hum Genet
;
2012 Jan; 18(1): 91-94
Artigo
em Inglês
| IMSEAR
| ID: sea-139450
ABSTRACT
CONTEXT Multiplex ligation probe amplification (MLPA) is a new technique to identify deletions and duplications and can evaluate all 79 exons in dystrophin gene in patients with Duchenne muscular dystrophy (DMD). Being semi-quantitative, MLPA is also effective in detecting duplications and carrier testing of females; both of which cannot be done using multiplex PCR. It has found applications in diagnostics of many genetic disorders. AIM:
To study the utility of MLPA in diagnosis and carrier detection for DMD. MATERIALS ANDMETHODS:
Mutation analysis and carrier detection was done by multiplex PCR and MLPA and the results were compared. RESULTS ANDCONCLUSIONS:
We present data showing utility of MLPA in identifying mutations in cases with DMD/BMD. In the present study using MLPA, we identified mutations in additional 5.6% cases of DMD in whom multiplex PCR was not able to detect intragenic deletions. In addition, MLPA also correctly confirmed carrier status of two obligate carriers and revealed carrier status in 6 of 8 mothers of sporadic cases.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Feminino
/
Humanos
/
Masculino
/
Reação em Cadeia da Polimerase
/
Distrofina
/
Distrofia Muscular de Duchenne
/
Reação em Cadeia da Polimerase Multiplex
/
Proteínas de Membrana
Tipo de estudo:
Estudo diagnóstico
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2012
Tipo de documento:
Artigo
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