PROPORTION AND PATTERN OF DYSTROPHIN GENE DELETIONS IN NORTH INDIAN DUCHENNE AND BECKER MUSCULAR-DYSTROPHY PATIENTS

Population-based variations in frequency and distribution of dystrophi n gene deletions have been recognized in Duchenne/Becker (DMD/BMD) mus cular dystrophy patients. In the present study, DNA samples from 121 u nrelated DMD/BMD patients from North India were analyzed for deletiona l studies with multiplex PCR and Southern hybridization. A total of 88 (73%) patients showed intragenic deletions in the dystrophin gene. Th e observed proportion of gene deletions is relatively high, particular ly compared with that of Asian counterparts. However, the distribution of breakpoints across the gene does not show significant variations.