The contribution of the m.1494CT variant of the gene associated with aminoglycoside-induced deafness (, OMIM 561000) to the etiology of hearing loss (HL) is still poorly studied. In this regard, aim of the study – screening of the m.1494CT gene among patients with HL in the Republic of Buryatia located in the Baikal Lake region of Russia and reconstructed the mitochondrial lineages in 27 patients with m.1494CT variant from different regions of the world. From available data and based on the results of a genome-wide analysis of mtDNA of one patient with m.1494CT detected in this study we are reconstructed the mitochondrial lineages in 27 patients with m.1494CT variant from different regions of the world. As a result, 19 different mtDNA haplogroups were identified, which likely indicates the independent origin of the m.1494CT variant on the different mitochondrial background. However, in patients with m.1494CT were found the high frequency of haplogroup A* (18.5%, 5/27), which in 13 times exceeded (χ = 45.274; p 0.001) the mean frequency of this haplogroup (1.45%, 519/35748) in worldwide population. The over representation of haplogroup A* among patients with m.1494CT may be due of their common ancestry. The possible influence of a founder effect on the prevalence of the , the target screening of the m.1494CT variant in previously unexplored cohorts of patients with HL is a more relevant, primarily in regions where the haplogroups A* and A2 were found – in Asia and America.
T.V. Borisova (Wed,) studied this question.