电邮这篇文章 Reconstruction of SNP haplotypes with mutation c.-23+1G>A in human gene GJB2 (Chromosome 13) in some populations of Eurasia
- 作者: Solovyev A.V.1,2, Barashkov N.A.1,2, Bady-Khoo M.S.3, Zytsar M.V.4,5, Posukh O.L.4,5, Romanov G.P.1,2, Rafailov A.M.1, Sazonov N.N.1, Alexeev A.N.6, Dzhemileva L.U.7,8, Khusnutdinova E.K.7,9, Fedorova S.A.1,2
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隶属关系:
- Ammosov North-Eastern Federal University
- Yakut Scientific Center of Complex Medical Problems
- Perinatal Center of the Tuva Republic
- Federal Research Center Institute of Cytology and Genetics, Siberian Branch
- Novosibirsk State University
- Institute of Humanitarian Research and Indigenous Peoples of the North, Siberian Branch
- Institute of Biochemistry and Genetics, Ufa Scientific Centre
- Bashkir State Medical University
- Bashkir State University
- 期: 卷 53, 编号 8 (2017)
- 页面: 936-941
- 栏目: Short Communications
- URL: https://journals.rcsi.science/1022-7954/article/view/188412
- DOI: https://doi.org/10.1134/S1022795417080099
- ID: 188412
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详细
The c.-23+1G>A splice site mutation is one of the most frequent mutations of gene GJB2 (Cx26, 13q11-q12) associated with congenital non-syndromic autosomal recessive deafness. This mutation is characterized by a wide spread from Eastern Siberia and Central Asia to Eastern Europe, the Middle East, and South Asia. It is currently unknown whether this mutation spread over such a vast territory as a result of the founder effect or there were several local centers of origin of this mutation. For the first time, on the basis of the analysis of variability of nine SNP markers, five different haplotypes in deaf patients homozygous for mutation c.-23+1G>A from six Eurasian populations were reconstructed. The structure of the haplotypes revealed in Yakuts, Russians, Evenks, Tuvinians, Mongols, and Turks makes it possible to assume that mutation c.-23+1G>A (GJB2) could have spread across Eurasia as a result of the founder effect. The greatest diversity of haplotypes with c.-23+1G>A was found in patients from Mongolia, which probably refers to the earlier period of expansion of haplotypes carrying this mutation on the territory of Central Asia.
作者简介
A. Solovyev
Ammosov North-Eastern Federal University; Yakut Scientific Center 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, 677000; Yakutsk, 677010
N. Barashkov
Ammosov North-Eastern Federal University; Yakut Scientific Center of Complex Medical Problems
Email: nelloann@mail.ru
俄罗斯联邦, Yakutsk, 677000; Yakutsk, 677010
M. Bady-Khoo
Perinatal Center of the Tuva Republic
Email: nelloann@mail.ru
俄罗斯联邦, Kyzyl, 667003
M. Zytsar
Federal Research Center Institute of Cytology and Genetics, Siberian Branch; Novosibirsk State University
Email: nelloann@mail.ru
俄罗斯联邦, Novosibirsk, 630090; Novosibirsk, 630090
O. Posukh
Federal Research Center Institute of Cytology and Genetics, Siberian Branch; Novosibirsk State University
Email: nelloann@mail.ru
俄罗斯联邦, Novosibirsk, 630090; Novosibirsk, 630090
G. Romanov
Ammosov North-Eastern Federal University; Yakut Scientific Center of Complex Medical Problems
Email: nelloann@mail.ru
俄罗斯联邦, Yakutsk, 677000; Yakutsk, 677010
A. Rafailov
Ammosov North-Eastern Federal University
Email: nelloann@mail.ru
俄罗斯联邦, Yakutsk, 677000
N. Sazonov
Ammosov North-Eastern Federal University
Email: nelloann@mail.ru
俄罗斯联邦, Yakutsk, 677000
A. Alexeev
Institute of Humanitarian Research and Indigenous Peoples of the North, Siberian Branch
Email: nelloann@mail.ru
俄罗斯联邦, Yakutsk, 677000
L. Dzhemileva
Institute of Biochemistry and Genetics, Ufa Scientific Centre; Bashkir State Medical University
Email: nelloann@mail.ru
俄罗斯联邦, Ufa, 450054; Ufa, 450000
E. Khusnutdinova
Institute of Biochemistry and Genetics, Ufa Scientific Centre; Bashkir State University
Email: nelloann@mail.ru
俄罗斯联邦, Ufa, 450054; Ufa, 450000
S. Fedorova
Ammosov North-Eastern Federal University; Yakut Scientific Center of Complex Medical Problems
Email: nelloann@mail.ru
俄罗斯联邦, Yakutsk, 677000; Yakutsk, 677010
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