Central Asian Journal of Pediatrics

Central Asian Journal of Pediatrics


The direct DNA-diagnosis of 99 patients with progressive and muscular dystrophy by Duchene/Becker (PMDD/B) from 86 families, 92 (92, 9%) patients with PMD Duchene, 7 (7, 1%) patients with PMD Becker. The analysis was performed by 20 exons of dystrophin gene in promotor area, 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 family being burden with PMDD/B, and use intragenic high polymorphic markers those were located in 45 (STR-45), 49 (STR-49), 50(STR-50) introns of gene. The mutations were revealed in 18 exons from 20 studies that caused the necessity of further research of deletion spectrum for mutation in gene of dystrophin in our population. Heterozygous genotype STR-45 (СА)28 was high informative at revealing heterozygous carriers of damaged gene of distrophine among patient’s relative of PMDD/B in Uzbekistan.

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