title: [Deletion analysis of the dystrophin gene in patients with Duchenne's muscular dystrophy in Tajikistan].
abstract: The deletion spectrum of the dystrophin gene was studied in 25 patients with Duchenne's muscular dystrophy (DMD) from 23 families in Tajikistan. To detect deletions, 17 various regions of the dystrophin gene were amplified by means of polymerase chain reaction (PCR). Deletions were revealed in 13 patients from 12 families (52%). The deletion frequency 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 detected in 35% of patients (73% of patients with deletions). This showed the significance of analyzing the distal part of the gene for DMD diagnostics in Tajikistan. Studying the location of deletion breakpoints revealed a "hot spot" within the dystrophin gene: right (distal) deletion breakpoints occurred between exons 50 and 52 in 73% of deletions.
authors.forename: O N
authors.initials: ON
authors.lastname: Odinokova
authors.forename: V P
authors.initials: VP
authors.lastname: Puzyrev
authors.forename: Sh F
authors.initials: ShF
authors.lastname: Radzhabaliev
authors.forename: R A
authors.initials: RA
authors.lastname: Rakhmonov
mesh_terms: D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D009136:Muscular Dystrophies / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic; D013620:Tajikistan
chemical_list: D016189:Dystrophin
vernacular_title: Analiz deletsiĭ gena distrofina u bol'nykh s miodistrofieĭ Diushenna v Tadzhikistane.