DELETION ANALYSIS OF THE DYSTROPHIN GENE IN PATIENTS WITH DUCHENNES MUSCULAR-DYSTROPHY IN TAJIKISTAN

The deletion spectrum of the dystrophin gene was studied in 25 patient s with Duchenne's muscular dystrophy (DMD) from 23 families in Tajikis tan. To detect deletions, 17 various regions of the dystrophin gene we re amplified by means of polymerase chain reaction (PCR). Deletions we re revealed in 13 patients from 12 families (52%). The deletion freque ncy differed in different gene exons, but deletions in the distal part of the gene prevailed (in 91% of cases). Deletions from exons 47 and 48 were detected in 22% of patients; deletions from exon 50 were detec ted in 35% of patients (73% of patients with deletions). This showed t he significance of analyzing the distal part of the gene for DMD diagn ostics in Tajikistan. Studying the location of deletion breakpoints re vealed a ''hot spot'' within the dystrophin gene: right (distal) delet ion breakpoints occurred between exons 50 and 52 in 73% of deletions.