Duchenne and Becker progressing muscular dystrophies (D/BPMD) are the one of the most common congenital diseases of the neuromuscular system of juniors in the world. Along with the improvement in medical and genetic service and the quality of prevention and early diagnosis of congenital and hereditary diseases, there are a number of tasks that are pending, including medical and genetic counseling of hereditary diseases of the neuromuscular system in children. Direct DNA diagnostics was performed for 99 patients with D/BPMD from 86 families, 92 (92.9%) patients with DPMD, 7 (7.1%) patients with Becker PMD. 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 performed in 21 families weighed by D/BPMD using intragenic highly polymorphic markers located in the 45th (STR-45), 49th (STR-49), 50th (STR-50) gene introns. Mutations in 18 exons out of 20 studied were identified, which necessitates further study of the deletion spectrum of mutations in the dystrophin gene in our population. In 35 patients (35.4%) of 32 families (37.2%), no deletions were detected, and in 64 patients (64.6%) of 54 families (62.8%), dystrophin gene deletions were detected with various lengths - from one to nine exons: in 70.4% of families extended deletions were verified (44 patients), deletions of one exon were found in 29.6% of families (20 patients). The heterozygous genotype STR-45 (CA) 28 is highly informative in identifying heterozygous carriers of the damaged dystrophin gene among relatives of the D/BPMD patient in Uzbekistan. There is huge demand for sequencing of a limited portion of the DMD gene to determine the point mutation of 32 exon in the dystrophin gene. Furthermore, carrying out prenatal diagnosis in high-risk families according to D/BPMD allowed to prevent the birth of sick children and reduce disability among children for this disease.
Madzhidova, Y.N. and Omonova, U.T.
"DISTROPHIN GENE MUTATION SPECTRUM IN CHILDREN WITH DUCHENNE/BECKER PROGRESSING MUSCULAR DYSTROPHIES IN UZBEKISTAN,"
Central Asian Journal of Pediatrics: Vol. 3
, Article 8.
Available at: https://uzjournals.edu.uz/pediatrics/vol3/iss1/8