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.
Copyright
Association for Helping Neurosurgical Sick People. This is an open
access article published by Thieme under the terms of the Creative
Commons Attribution-Non Derivative-Non Commercial License, permitting
copying and reproduction so long as the original work is given
appropriate credit.
Contents may not be used for commercial purposes, or
adapted, remixed, transformed or built upon. ( https://creativecommons.org/licenses/by-nc-nd/4.0/
)
This is an open-access article distributed under the terms of the
Creative Commons Attribution-Non Commercial-No Derivatives License, which
permits unrestricted reproduction and distribution, for non-commercial
purposes only; and use and reproduction, but not distribution, of
adapted material for non-commercial purposes only, provided the original
work is properly cited.
