Results of molecular genetic studies of progressing muscular dystrophies of dushen/becker in Uzbekistan

Direct DNA diagnostics was performed for 91 patients with DMD/B from 81 families, 84 (92.3%) patients with Duchenne muscular dystrophy, 7 (8.6%) patients with Becker muscular dystrophy. The analysis was carried out on 20 exons of the dystrophin gene — the promoter region, 3, 4, 6, 8, 13, 17, 19, 32, 42, 43, 44, 45, 47, 48, 50, 51, 52, 53, 60 exons. Indirect diagnosis was carried out in 21 families burdened with DMD/B using intragenic highly polymorphic markers located in the 45th (STR-45), 49th (STR-49), 50th (STR-50) gene introns. According to the results of molecular diagnostics, 33 deletions were not detected in 33 patients (36.3%) of 32 families (39.5%), and major gene deletions were detected in 58 patients (63.7%) of 49 families (60.5%) dystrophin of various lengths-from one to nine exons: in 65.3% of families, extended deletions were verified, deletions of one exon were found in 34.7% of families. The main deletion spectrum was located in the distal part of the dystrophin gene-the 3’-end (deletions of 40-60 exons), which amounted to 81.6% (40 families, 47 patients).