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