Reconstruction of SNP-Haplotypes with Mutation c.-23+1G>A in <i>GJB2 </i>Gene (Chromosome 13) in Some Populations of Eurasia
The c.-23+1G>A splice site mutation is one of the most frequent mutations of the GJB2 gene (Cx26, 13q11-q12) associated with congenital non-syndromic autosomal recessive deafness. This mutation is characterized by wide prevalence from Eastern Siberia and Central Asia to East Europe, Middle East, and South Asia. It is currently unknown - whether this mutation is spread on a vast territory as a result of founder effect, or there were several local centers of origin of this mutation. For the first time, based on the analysis of variability of 9 SNP-markers, 5 different haplotypes in deaf patients homozygous for the mutation c.-23+1G>A from six Eurasian populations were reconstructed. The structure of the haplotypes revealed in Yakuts, Russian, Evenk, Tuvinians, Mongols, and Turks, allows to assume that the mutation c.-23+1G>A (GJB2) could spread across Eurasia as a result of 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 Central Asia territory. English translation of the paper published in Russian Journal of Genetics, 2017, Vol. 53, No. 8, is available ONLINE by subscription from: http://www.springer.com/, http://link.springer.com/journal/11177