Елизавета Шаронова » Публикация

Аннотация Mutations in the GJB2 gene are a major cause of autosomal recessive and sporadic non-syndromic hearing loss in many populations. This study aims to determine the frequencies of 35delG mutation in different ethnic groups of Russia. The patients with non-syndromic hereditary hearing loss from four ethnic groups (Chuvashs, Udmurths, Bashkirs and Russians from Rostov Regions) were analyzed for 35delG mutation in connexine 26 gene. Analysis of 60 patients with non-syndromic hereditary hearing loss from Chuvash Republic, 85 patients from Rostov Region, 36 patients from Republic of Bashkortostan, 58 patients from Udmurt Republic, showed that frequency for 35delG mutation was specific to Russian ethnic group (42.86%, 45%, 8.33%, 62.5%, respectively). Among the patients with non-syndromic hereditary hearing loss from other ethnic groups, frequencies of 35delG mutation were 5% for Chuvashs, 2.44% for Udmurths, 6.06% for Bashkirs. More then 2574 healthy donors from five ethnic groups from Russia (Chuvashs, Maries, Udmurths, Bashkirs and Russians from Tver and Rostov Regions) were analyzed for 35delG mutation in GJB2 gene. Significant differencies in mutation frequencies between different ethnic groups were discovered. Analysis showed that frequency of 35delG mutation for Chuvashs ethnic group was 0.48% (5 chromosomes with mutation 35delG out of 1040 analysed (5/1040)), for Maries - 0.99% (8/804), for Udmurths - 0.25% (3/1184), for Bashkirs - 0.25% (2/792), for Russian - 1.44% (19/1320). According to this research, contribution of 35delG mutation in connexine 26 gene to the development of non-syndromic hereditary hearing loss in various ethnic groups of Russia is different.