Reconstruction of SNP haplotypes with mutation c.-23+1G>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

Результат исследования: Научные публикации в периодических изданияхстатьярецензирование

1 Цитирования (Scopus)


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.

Язык оригиналаанглийский
Страницы (с-по)936-941
Число страниц6
ЖурналRussian Journal of Genetics
Номер выпуска8
СостояниеОпубликовано - 1 авг 2017


Подробные сведения о темах исследования «Reconstruction of SNP haplotypes with mutation c.-23+1G>A in human gene GJB2 (Chromosome 13) in some populations of Eurasia». Вместе они формируют уникальный семантический отпечаток (fingerprint).