We studied the molecular basis of NSHL in Volga-Ural region. The Volga–Ural region of Russia is of particular interest, because its ethnic populations mostly belong to the Turkic, Finno-Ugric, and Slavonic linguistic groups and have complex ethno genesis and combine the Caucasian and Mongoloid components in various proportions. The data on the prevalence of hereditary non-syndromic sensorineural hearing loss in the Volga-Ural region was received. It was 5.7 per 100000 (1:17543) of the population. The heterozygous carrier frequency of c.35delG, c.167delT and c.235delC mutations of the GJB2 gene in 17 populations of Eurasia was revealed. The analysis of the spectrum and frequency of mutations in genes GJB2, GJB6, GJB3, 12SrRNA, tRNASer (UCN), SLC26A4 and SLC26A5 in patients with non-syndromic sensorineural hearing loss from Bashkortostan Republic was performed. The mechanism of accumulation of non-syndromic sensorineural hearing loss caused by c.35delG mutation in Volga-Ural region is analyzed on the basis of haplotype analysis. The age of c.35delG mutation in the GJB2 gene in populations of the Volga-Ural region was defined. New approaches are developed to prevent hereditary sensorineural hearing loss and to improve medical and genetic consulting for patients with the inherited form of hearing impairment in Volga-Ural region.

Тип: Article