Molecular Genetic Analysis of Cases of Hearing Loss in Evenks and Evens of Yakutia

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Abstract

living in Yakutia. It was found that in 45.5% of cases the genetic etiology of hearing impairment in Evenks and Evens is associated with the prevalence of three forms of deafness – DFNB103, DFNB1A and MTRNR1 – caused by pathogenic variants of the CLIC5, GJB2 and MT-RNR1 genes, respectively. Genetic and epidemiological analysis showed that the territorial prevalence of DFNB103, DFNB1A and MTRNR1 in Yakutia was 1 in 82 973, with local accumulation in the Eveno-Bytantaisky national district (1 in 264). Clinical and genealogical analysis of cases of hearing loss in this national district indicated the family causes of the accumulation of identified forms of hearing loss, which is probably due to the endogamy of the marriage structure of this population of Eastern Siberia.

About the authors

Vera G. Pshennikova

Yakut Science Centre of Complex Medical Problems

Author for correspondence.
Email: psennikovavera@mail.ru
Russian Federation, 6/3 Yaroslavsky Str., Yakutsk, 677018, Republic of Sakha (Yakutia), Russia

Fedor M. Teryutin

Yakut Science Centre of Complex Medical Problems

Email: rest26@mail.ru
Russian Federation, 6/3 Yaroslavsky Str., Yakutsk, 677018, Republic of Sakha (Yakutia), Russia

Nikolay A. Barashkov

Yakut Science Centre of Complex Medical Problems

Email: barashkov2004@mail.ru
Russian Federation, 6/3 Yaroslavsky Str., Yakutsk, 677018, Republic of Sakha (Yakutia), Russia

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