Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
Reconstruction of SNP haplotypes with mutation c.-23+1G>A in human gene GJB2 (Chromosome 13) in some populations of Eurasia. / Solovyev, A. V.; Barashkov, N. A.; Bady-Khoo, M. S. и др.
в: Russian Journal of Genetics, Том 53, № 8, 01.08.2017, стр. 936-941.Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
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TY - JOUR
T1 - Reconstruction of SNP haplotypes with mutation c.-23+1G>A in human gene GJB2 (Chromosome 13) in some populations of Eurasia
AU - Solovyev, A. V.
AU - Barashkov, N. A.
AU - Bady-Khoo, M. S.
AU - Zytsar, M. V.
AU - Posukh, O. L.
AU - Romanov, G. P.
AU - Rafailov, A. M.
AU - Sazonov, N. N.
AU - Alexeev, A. N.
AU - Dzhemileva, L. U.
AU - Khusnutdinova, E. K.
AU - Fedorova, S. A.
N1 - Publisher Copyright: © 2017, Pleiades Publishing, Inc.
PY - 2017/8/1
Y1 - 2017/8/1
N2 - 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.
AB - 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.
KW - Eurasia
KW - founder effect
KW - gene GJB2
KW - mutation c.-23+1G>A
UR - http://www.scopus.com/inward/record.url?scp=85028769805&partnerID=8YFLogxK
U2 - 10.1134/S1022795417080099
DO - 10.1134/S1022795417080099
M3 - Article
AN - SCOPUS:85028769805
VL - 53
SP - 936
EP - 941
JO - Russian Journal of Genetics
JF - Russian Journal of Genetics
SN - 1022-7954
IS - 8
ER -
ID: 9914976