title: Analysis of dystrophin gene deletions by multiplex PCR in eastern India.
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.
authors.affiliation: Department of Biophysics, Molecular Biology and Genetics, University of Calcutta, 92, A.P.C. Road, Kolkata, India. bjayasri_2000@yahoo.com
authors.forename: Jayasri
authors.initials: J
authors.lastname: Basak
authors.forename: Uma B
authors.initials: UB
authors.lastname: Dasgupta
authors.forename: Tapas K
authors.initials: TK
authors.lastname: Banerjee
authors.forename: Asit K
authors.initials: AK
authors.lastname: Senapati
authors.forename: Shyamal K
authors.initials: SK
authors.lastname: Das
authors.forename: Subhash C
authors.initials: SC
authors.lastname: Mukherjee
mesh_terms: D017668:Age of Onset; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000453:epidemiology / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D012333:RNA, Messenger / Q000378:metabolism
chemical_list: D016189:Dystrophin; D012333:RNA, Messenger