Тип публикации: статья из журнала

Год издания: 2017

Идентификатор DOI: 10.1134/S1022795417080099

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

Аннотация: 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 unkПоказать полностьюnown 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. © 2017, Pleiades Publishing, Inc.

Журнал: Russian Journal of Genetics

Выпуск журнала: Vol. 53, Is. 8

Номера страниц: 936-941

ISSN журнала: 10227954

Издатель: Maik Nauka Publishing / Springer SBM

• Solovyev A.V. (Ammosov North-Eastern Federal University, Yakutsk, Russian Federation, Yakut Scientific Center of Complex Medical Problems, Yakutsk, Russian Federation)
• Barashkov N.A. (Ammosov North-Eastern Federal University, Yakutsk, Russian Federation, Yakut Scientific Center of Complex Medical Problems, Yakutsk, Russian Federation)
• Bady-Khoo M.S. (Perinatal Center of the Tuva Republic, Kyzyl, Russian Federation)
• Zytsar M.V. (Federal Research Center Institute of Cytology and Genetics, Siberian Branch, Russian Academy of Sciences, Novosibirsk, Russian Federation, Novosibirsk State University, Novosibirsk, Russian Federation)
• Posukh O.L. (Federal Research Center Institute of Cytology and Genetics, Siberian Branch, Russian Academy of Sciences, Novosibirsk, Russian Federation, Novosibirsk State University, Novosibirsk, Russian Federation)
• Romanov G.P. (Ammosov North-Eastern Federal University, Yakutsk, Russian Federation, Yakut Scientific Center of Complex Medical Problems, Yakutsk, Russian Federation)
• Rafailov A.M. (Ammosov North-Eastern Federal University, Yakutsk, Russian Federation)
• Sazonov N.N. (Ammosov North-Eastern Federal University, Yakutsk, Russian Federation)
• Alexeev A.N. (Institute of Humanitarian Research and Indigenous Peoples of the North, Siberian Branch, Russian Academy of Sciences, Yakutsk, Russian Federation)
• Dzhemileva L.U. (Institute of Biochemistry and Genetics, Ufa Scientific Centre, Russian Academy of Sciences, Ufa, Russian Federation, Bashkir State Medical University, Ufa, Russian Federation)
• Khusnutdinova E.K. (Institute of Biochemistry and Genetics, Ufa Scientific Centre, Russian Academy of Sciences, Ufa, Russian Federation, Bashkir State University, Ufa, Russian Federation)
• Fedorova S.A. (Ammosov North-Eastern Federal University, Yakutsk, Russian Federation, Yakut Scientific Center of Complex Medical Problems, Yakutsk, Russian Federation)

• Scopus