[Pattern of dystrophin gene deletions in patients affected by Duchenne muscular dystrophy in Ahwaz City]

ABSTRACT

About 40-70% of all mutations in dystrophin gene in Duchenne muscular dystrophy [DMD] are deletions, but large variations in the proportion of intragenic deletions in the dystrophin gene have been observed in different populations. In order to further investigate the geographical and ethnic variations, the present study reports our findings on the proportion and pattern of deletional mutations in DMD patients from Ahwaz City. In the present study, DNA samples from 10 unrelated DMD patients were analyzed for deletional mutations using multiplex PCR. A total of 6 patients [60%] showed intragenic deletions in the dystrophin gene; 3 in the proximal hot spot and 3 in the central hot spot. The observed proportion of gene deletions is relatively high, particularly compared with those of European and Asian countries and similar to that of North India. However, the distribution of breakpoints across the gene does not show significant variation