PATTERN OF DYSTROPHIN GENE DELETIONS IN MUSCULAR DYSTROPHY (DUCHENNE & BECKER'S MUSCULAR DYSTROPHY) PATIENTS OF KASHMIR(INDIA)

摘要

120 subjects including 12 patients with Duchenne Muscular Dystrophy and their family members from Kashmir valley (North India) were studied for intragenic deletion in 18 exons of the DMD gene using multiplex PCR. All except one of the DMD patients (91.66%) showed intragenic deletions. 60% of the deletions were located at the distal hotspot region (exons 44-55) and 40% of the deletions were located at the proximal region (exons 2-19). Exor, 48 followed by exons 47 & 51 are most frequently deleted. Majority of the patients showed multiple deletions, of which four patients showed deletion of two exons and only one patient showed single exon deletion. Multiplex PCR methodology could detect deletions in affected cases and not in unaffected family members. This study, the first of its kind in Kashmiri population, documents one of the highest deletion rates in dystrophin gene in DMD patients. The differences pbserved in pattern and proportion of intragenic deletions could be the result of population-specific intronic sequences that predispose individuals to preferential deletion breakpoints.