European Journal of Biomedical and Pharmaceutical Sciences

MOLECULAR EVALUATION OF DUCHENNE MUSCULAR DYSTROPHY PATIENTS IN GUJARATI POPULATION

Tania Majumdar, Gaurang M. Sindhav, J. J. Mehta and Mandava V. Rao*,

ABSTRACT

Duchenne muscular dystrophy (DMD) is an X linked recessive disorder affecting mostly males with an incidence of 1 in 3600 liveborn boys. The gene for Dystrophin protein is located on X p 21 in males. In this study, 19 clinically diagnosed patients had CK level evaluated and were tested for exon deletions using multiplex PCR. Of the 19 clinically suspected DMD patients, the diagnosis of DMD was confirmed by CK value and/or genetics in 16 patients. The mean age of onset was 5.33 years and the mean age of presentation was 11 years. Delayed motor milestones were present in 17/19 patients (89%) patients. The mean CK value was 11,417 U/l. Of 19 patients, 16 cases showed deletion in at least one exon. Single exon deletion was found in 9 (47%) patients. Distal hotspot Exons 50, 48, 47 and 51 were the commonly deleted exon types and the deletion rates were 17.95%, 15.38%, 12.82% and 10.26% respectively. In this study population in Gujarat, India the deletion rate was 84.21% and were more frequent in the distal end exon. With the availability of genetic analysis, the first investigation of choice in DMD should be genetic analysis before genetic counseling.

Keywords: DMD Patients, Clinical Features, Gene Analysis, Gujarati Population.