Selective Heterozygous Advantage of Carriers of с.-23+1G>A Mutation in GJB2 Gene Causing Autosomal Recessive Deafness 1A
- 作者: Solovyev A.1,2, Barashkov N.1,2, Teryutin F.1,2, Pshennikova V.1,2, Romanov G.1,2, Rafailov A.1, Sazonov N.1, Dzhemileva L.3, Tomsky M.2, Posukh O.4, Khusnutdinova E.3,5, Fedorova S.1,2
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隶属关系:
- 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
- 期: 卷 167, 编号 3 (2019)
- 页面: 380-383
- 栏目: Article
- URL: https://journals.rcsi.science/0007-4888/article/view/241718
- DOI: https://doi.org/10.1007/s10517-019-04531-y
- ID: 241718
如何引用文章
详细
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.
作者简介
A. Solovyev
Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University; Yakut Science Centre of Complex Medical Problems
编辑信件的主要联系方式.
Email: nelloann@mail.ru
俄罗斯联邦, Yakutsk; Yakutsk
N. Barashkov
Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University; Yakut Science Centre of Complex Medical Problems
Email: nelloann@mail.ru
俄罗斯联邦, Yakutsk; Yakutsk
F. Teryutin
Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University; Yakut Science Centre of Complex Medical Problems
Email: nelloann@mail.ru
俄罗斯联邦, Yakutsk; Yakutsk
V. Pshennikova
Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University; Yakut Science Centre of Complex Medical Problems
Email: nelloann@mail.ru
俄罗斯联邦, Yakutsk; Yakutsk
G. Romanov
Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University; Yakut Science Centre of Complex Medical Problems
Email: nelloann@mail.ru
俄罗斯联邦, Yakutsk; Yakutsk
A. Rafailov
Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University
Email: nelloann@mail.ru
俄罗斯联邦, Yakutsk
N. Sazonov
Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University
Email: nelloann@mail.ru
俄罗斯联邦, Yakutsk
L. Dzhemileva
Institute of Biochemistry and Genetics, Ufa Federal Research Center, Russian Academy of Sciences
Email: nelloann@mail.ru
俄罗斯联邦, Ufa
M. Tomsky
Yakut Science Centre of Complex Medical Problems
Email: nelloann@mail.ru
俄罗斯联邦, Yakutsk
O. Posukh
Federal Research Center Institute of Cytology and Genetics, Siberian Division of the Russian Academy of Sciences
Email: nelloann@mail.ru
俄罗斯联邦, Novosibirsk
E. Khusnutdinova
Institute of Biochemistry and Genetics, Ufa Federal Research Center, Russian Academy of Sciences; Bashkir State University
Email: nelloann@mail.ru
俄罗斯联邦, Ufa; Ufa
S. Fedorova
Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University; Yakut Science Centre of Complex Medical Problems
Email: nelloann@mail.ru
俄罗斯联邦, Yakutsk; Yakutsk