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Deletion pattern in the dystrophin gene in Duchenne muscular dystrophy patients in northeast India
Dr. Ashok K Kayal Department of Neurology, Gauhati Medical College Hospital Indrapur, Guwahati - 781 032, Assam India akkayal.gmcneuro@gmail.com
This article was originally published by Thieme Medical and Scientific Publishers Private Ltd. and was migrated to Scientific Scholar after the change of Publisher.
Abstract
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.
Keywords
Duchenne muscular dystrophy
dystrophin gene
exon deletions
polymerase chain reaction
Conflict of Interest
None declared
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