Autosomal recessive deafness 1A (DFNB1 A): identification of the endemic GJB2 – allelic variant in Eastern Siberia
Abstract
In this study we registered a large cohort of Yakut patients homozygous for the IVS1+1G>A mutation (70 unrelated deaf subjects in total). The extremely high carrier frequency of the IVS1+1G>A mutation from six investigated populations has been found in Yakut population. Reconstruction of 140 haplotypes with IVS1+1G>A mutation demonstrates the common origin of all mutant chromosomes found in Yakuts. The age of mutation was estimated to be approximately 800 years. These findings characterize Eastern Siberia as the region with the most extensive accumulation of the IVS1+1G>A mutation in the world as a result of founder effect.
About the Authors
N. A. Barashkov
СВФУ им. М.К. Аммосова;
Якутский НЦ КМП СО РАМН
Russian Federation
Russian Federation
L. U. Dzhemileva
ФГБУН ИБГ УНЦ РАН
Russian Federation
Russian Federation
O. L. Posukh
ФГБУН ИЦиГ СО РАН;
ФГБОУ ВПО «Новосибирский национальный исследовательский гос. ун-т»
Russian Federation
Russian Federation
F. M. Teryutin
СВФУ;
Якутский НЦ КМП СО РАМН
Russian Federation
Russian Federation
A. V. Solov'ev
СВФУ;
Якутский НЦ КМП СО РАМН
Russian Federation
Russian Federation
V. G. Pshennikova
Якутский НЦ КМП СО РАМН
Russian Federation
Russian Federation
N. A. Solov'eva
Якутский НЦ КМП СО РАМН
Russian Federation
Russian Federation
E. E. Fedotova
СВФУ;
Якутский НЦ КМП СО РАМН
Russian Federation
Russian Federation
A. N. Alekseev
ФГУН ИГИ и ПМНС СО РАН
Russian Federation
Russian Federation
S. A. Fedorova
ГБУ РС(Я) РБ№1-НЦМ
Russian Federation
Russian Federation
E. K. Khusnutdinova
ФГБУН ИБГ УНЦ РАН;
ФГБОУ ВПО «Башкирский государственный университет»
Russian Federation
Russian Federation
References
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Review
For citations:
Barashkov N.A., Dzhemileva L.U., Posukh O.L., Teryutin F.M., Solov'ev A.V., Pshennikova V.G., Solov'eva N.A., Fedotova E.E., Alekseev A.N., Fedorova S.A., Khusnutdinova E.K. Autosomal recessive deafness 1A (DFNB1 A): identification of the endemic GJB2 – allelic variant in Eastern Siberia. Yakut Medical Journal. 2012;(4):101-104. (In Russ.)
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