Proportion and pattern of dystrophin gene deletions in North Indian Duchenne and Becker muscular dystrophy patients |
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| Authors: | Vinita Singh Shirish Sinha Sudhish Mishra Lakshmi Shankar Chaturvedi Sunil Pradhan R D Mittal B Mittal |
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| Institution: | (1) Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow-226014, India Fax: +91-522-440973; e-mail: balraj@sgpgi.ren.nic.in, IN;(2) Department of Neurology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow-226014, India, IN;(3) Department of Pathology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow-226014, India, IN |
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| Abstract: | Population-based variations in frequency and distribution of dystrophin gene deletions have been recognized in Duchenne/Becker
(DMD/BMD) muscular dystrophy patients. In the present study, DNA samples from 121 unrelated DMD/BMD patients from North India
were analyzed for deletional studies with multiplex PCR and Southern hybridization. A total of 88 (73%) patients showed intragenic
deletions in the dystrophin gene. The observed proportion of gene deletions is relatively high, particularly compared with
that of Asian counterparts. However, the distribution of breakpoints across the gene does not show significant variations.
Received: 5 June 1996 / Revised: 4 September 1996 |
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