DMD Gene Mutation identification in Duchenne Muscular Dystrophy Patients of Quetta, Balochistan, Pakistan

Duchenne Muscular Dystrophy (DMD) is the most common inherited muscular disorder in children. It is caused by mutations in DMD gene which encodes dystrophin protein. Mutation analysis has been challenging in DMD gene due to its large size (2.4Mb with 79 exons). The present study aims to identify the mutations in distal hot spot regions of DMD gene in families affected with DMD of Balochistan. 2 families were identified from different areas of Balochistan. Blood samples were drawn from affected and healthy individuals of both families. DNA extraction was performed using inorganic DNA extraction method. Polymerase Chain Reaction (PCR) was performed for the 11 distal hot spot regions of DMD gene using specific primers, followed by gel electrophoresis. PCR products were further analyzed by DNA sequencing. Results of PCR indicated no exons deletions in family 1while in family 2 exons 48-50 were found deleted. DNA sequencing has not revealed any mutations in hot spot regions of both families. The results conclude that deletion mutation was observed in one affected individual of family 2 while further studies may require to confirm the mutations in proximal hot spot regions of other family.