title: Deletion pattern in the dystrophin gene in Duchenne muscular dystrophy patients in northeast India.
abstract: Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder that affects 1 in 3,500 males and is caused by mutations in the dystrophin gene. In this paper, we have reported DNA analysis of DMD patients by multiplex polymerase chain reaction (PCR) from various states of northeast India. Of the 69 clinically suspected patients of DMD, deletion was detected by multiplex PCR in 49 (71%) patients. Majority of the deletions (42/49, 85.7%) were located at distal hot spot region that encompasses exons 44-55 and 14.3% of the deletions were located at the proximal hot spot region (exons 2-19). In this study population, the deletion rate was 71% and was more frequent in the distal end exon.
authors.affiliation: Department of Neurology, Gauhati Medical college and Hospital, Guwahati, Assam, India.
authors.forename: Lakshya J
authors.initials: LJ
authors.lastname: Basumatary
authors.forename: Marami
authors.initials: M
authors.lastname: Das
authors.forename: Munindra
authors.initials: M
authors.lastname: Goswami
authors.forename: Ashok K
authors.initials: AK
authors.lastname: Kayal
keywords: Duchenne muscular dystrophy; dystrophin gene; exon deletions; polymerase chain reaction
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