Revista de Neurología y Neurociencia

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Abstracto

Duchene muscular dystrophy (DMD)/Becker muscular dystrophy (BMD): Genotyping and concept of prenatal diagnosis of Bangladesh

Abdul Aziz*, Waqar A khan, Atokia Bilkis, Shahin Mahmud

Background: Duchenne and Becker muscular dystrophy (DMD/ BMD) are X-linked recessive disorders caused by mutation in dystrophin gene. Patients with muscle weakness came to hospital for improvement their child. Physician advice to dystrophin gene analysis who have high Cpk (Creatine kinase) value and muscle weakness.

Methods: We collected 61 DMD/BMD patient specimens for genetic analysis in which three females were relatives. Multiplex polymerase chain reaction was done for detecting deletion of dystrophin gene.

Results: The overall mutation detection rate was 72.4% (21/29) in DMD/BMD patients, identifying deletions in 58.6% (17/29). Most of the deletions were confined to the central hot spot region between exons 44 and 55 (52.9%, 7/19).

Conclusion: In this study we found that the Exons 50, 51, 48 and 52 are most frequently deleted. The frequency of deletions in exon 50 (21.31%) was the most common deletion frequently associated with our Bangladeshi sample males. This study will help to set up an effective platform for prenatal diagnosis in Bangladesh.