Medknow Publications on behalf of the Neurological Society of India
Vol. 54, No. 3, 2006, pp. 310-311
Bioline Code: ni06101
Full paper language: English
Document type: Research Article
Document available free of charge
Neurology India, Vol. 54, No. 3, 2006, pp. 310-311
© Copyright 2006 Neurology India.
Brief Report - Analysis of dystrophin gene deletions by multiplex PCR in eastern India|
Basak Jayasri, Dasgupta Uma B, Banerjee Tapas K, Senapati Asit K, Das Shyamal K, Mukherjee Subhash C
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.
BMD, deletion, DMD, dystrophin gene, muscular dystrophy
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