Selective Heterozygous Advantage of Carriers of с.-23+1G>A Mutation in GJB2 Gene Causing Autosomal Recessive Deafness 1A
- Authors: Solovyev A.V.1,2, Barashkov N.A.1,2, Teryutin F.M.1,2, Pshennikova V.G.1,2, Romanov G.P.1,2, Rafailov A.M.1, Sazonov N.N.1, Dzhemileva L.U.3, Tomsky M.I.2, Posukh O.L.4, Khusnutdinova E.K.3,5, Fedorova S.A.1,2
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Affiliations:
- Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University
- Yakut Science Centre of Complex Medical Problems
- Institute of Biochemistry and Genetics, Ufa Federal Research Center, Russian Academy of Sciences
- Federal Research Center Institute of Cytology and Genetics, Siberian Division of the Russian Academy of Sciences
- Bashkir State University
- Issue: Vol 167, No 3 (2019)
- Pages: 380-383
- Section: Article
- URL: https://journals.rcsi.science/0007-4888/article/view/241718
- DOI: https://doi.org/10.1007/s10517-019-04531-y
- ID: 241718
Cite item
Abstract
We present the results of analysis of skin epidermis thickness in individuals with recessive mutation c.-23+1G>A in the GJB2 gene in comparison with individuals without this mutation living in Eastern Siberia (Yakut population). We examined 152 individuals with different genotypes by GJB2 gene mutation c.-23+1G>A. Homozygotes and heterozygotes by c.-23+1G>A have thicker epidermal layer (0.245 mm and 0.269 mm, respectively) in comparison with individuals without this mutation (0.193 mm) (p<0.05). The obtained data support the hypothesis about selective advantage of carriers of mutant GJB2 gene alleles and partly explain extremely high carrier frequency (10.3%) of c.-23+1G>A mutation in the GJB2 gene in Yakut population in Eastern Siberia.
About the authors
A. V. Solovyev
Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University; Yakut Science Centre of Complex Medical Problems
Author for correspondence.
Email: nelloann@mail.ru
Russian Federation, Yakutsk; Yakutsk
N. A. Barashkov
Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University; Yakut Science Centre of Complex Medical Problems
Email: nelloann@mail.ru
Russian Federation, Yakutsk; Yakutsk
F. M. Teryutin
Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University; Yakut Science Centre of Complex Medical Problems
Email: nelloann@mail.ru
Russian Federation, Yakutsk; Yakutsk
V. G. Pshennikova
Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University; Yakut Science Centre of Complex Medical Problems
Email: nelloann@mail.ru
Russian Federation, Yakutsk; Yakutsk
G. P. Romanov
Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University; Yakut Science Centre of Complex Medical Problems
Email: nelloann@mail.ru
Russian Federation, Yakutsk; Yakutsk
A. M. Rafailov
Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University
Email: nelloann@mail.ru
Russian Federation, Yakutsk
N. N. Sazonov
Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University
Email: nelloann@mail.ru
Russian Federation, Yakutsk
L. U. Dzhemileva
Institute of Biochemistry and Genetics, Ufa Federal Research Center, Russian Academy of Sciences
Email: nelloann@mail.ru
Russian Federation, Ufa
M. I. Tomsky
Yakut Science Centre of Complex Medical Problems
Email: nelloann@mail.ru
Russian Federation, Yakutsk
O. L. Posukh
Federal Research Center Institute of Cytology and Genetics, Siberian Division of the Russian Academy of Sciences
Email: nelloann@mail.ru
Russian Federation, Novosibirsk
E. K. Khusnutdinova
Institute of Biochemistry and Genetics, Ufa Federal Research Center, Russian Academy of Sciences; Bashkir State University
Email: nelloann@mail.ru
Russian Federation, Ufa; Ufa
S. A. Fedorova
Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University; Yakut Science Centre of Complex Medical Problems
Email: nelloann@mail.ru
Russian Federation, Yakutsk; Yakutsk