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.
This is a preview of subscription content, log in to check access.
Buy single article
Instant access to the full article PDF.
Price includes VAT for USA
Subscribe to journal
Immediate online access to all issues from 2019. Subscription will auto renew annually.
This is the net price. Taxes to be calculated in checkout.
Received: 5 June 1996 / Revised: 4 September 1996
About this article
Cite this article
Singh, V., Sinha, S., Mishra, S. et al. Proportion and pattern of dystrophin gene deletions in North Indian Duchenne and Becker muscular dystrophy patients. Hum Genet 99, 206–208 (1997). https://doi.org/10.1007/s004390050340
- Significant Variation
- Muscular Dystrophy
- Gene Deletion
- Southern Hybridization
- Dystrophin Gene