The Spectrum of Dystrophin Gene Mutations in Duchene Muscular Dystrophy Patients of South-Western Maharashtra in India

Abstract

Background: Duchenne muscular dystrophy is the most common neuromuscular disease of childhood caused by deletion or point mutations in the dystrophin gene. Though the importance of deletion mutations in the dystrophin gene causing DMD have been reported worldwide, no data available from rural population of Maharashtra. Objectives: This study specifically aimed at the investigation of deletion mutations in the DMD gene from the patients from South-Western Maharashtra. Material & Methods: Fifty patients with clinically diagnosed DMD were analyzed to screen for intragenic deletions in 21 exons within the DMD gene using the multiplex polymerase chain reaction. Results: Amongst the 50 unrelated DMD patients from South-Western Maharashrra we found DMD gene deletions in 47 cases which represent 94 % mutations in DMD patients. Majority of the deletions (85.10%) were located at distal hot spot region that encompasses exons 42-53 and 10.63% of the deletions were located at the proximal hot spot region (exons 2-19). Exons 50, 51, 52 and 53 are most frequently deleted. Conclusion: It is important to note that we could be the first to search for the most frequent deletions in the exons of DMD gene in from the rural areas of Maharashtra with the help of molecular biology tools.

Keywords

• Dystrophin
• Duchenne Muscular Dystrophy
• Multiplex Polymerase Chain Reaction