Reconstruction of SNP haplotypes with mutation c.-23+1G&gt;A in human gene  GJB2  (Chromosome 13) in some populations of Eurasia

A. V. Solovyev; N. A. Barashkov; M. S. Bady-Khoo; M. V. Zytsar; O. L. Posukh; G. P. Romanov; A. M. Rafailov; N. N. Sazonov; A. N. Alexeev; L. U. Dzhemileva; E. K. Khusnutdinova; S. A. Fedorova

doi:10.1134/S1022795417080099

Reconstruction of SNP haplotypes with mutation c.-23+1G>A in human gene GJB2 (Chromosome 13) in some populations of Eurasia

Authors: 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
Affiliations:
1. Ammosov North-Eastern Federal University
2. Yakut Scientific Center of Complex Medical Problems
3. Perinatal Center of the Tuva Republic
4. Federal Research Center Institute of Cytology and Genetics, Siberian Branch
5. Novosibirsk State University
6. Institute of Humanitarian Research and Indigenous Peoples of the North, Siberian Branch
7. Institute of Biochemistry and Genetics, Ufa Scientific Centre
8. Bashkir State Medical University
9. Bashkir State University
Issue: Vol 53, No 8 (2017)
Pages: 936-941
Section: 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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Abstract

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.

Keywords

gene GJB2, mutation c.-23+1G>, A, founder effect, Eurasia

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Reconstruction of SNP haplotypes with mutation c.-23+1G>A in human gene GJB2 (Chromosome 13) in some populations of Eurasia

Full Text

Abstract

Keywords

About the authors

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