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.
journal_name
Neurol Indiajournal_title
Neurology Indiaauthors
Basak J,Dasgupta UB,Banerjee TK,Senapati AK,Das SK,Mukherjee SCdoi
10.4103/0028-3886.27164subject
Has Abstractpub_date
2006-09-01 00:00:00pages
310-1issue
3eissn
0028-3886issn
1998-4022journal_volume
54pub_type
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