Variability of auditory threshold at deaf patients with splice site c.-23+1G>A mutation in GJB2 gene (Konneksin 26)
Abstract
In this article results of the audiological examination testifying to auditory threshold variability at deaf patients with splice site c.-23+1G>A mutation in GJB2 gene in homozygous state are presented. According to this study this GJB2-genotype is characterized by (horizontal) flat or sloping audioprofile. There are recommendations for applying the results obtained in practice.
Supporting agencies: We thank all patients and blood sample donors who have contributed to this study. This study was supported by the grants of the Russian Foundation for Basic Research (14-04-01741_A), (15-44-05106-r_vostok_a), (14-04-9010_Bel_A), (15-04-04860_A), Integration project of SB RAS #92 «Ethnogeny of indigenous peoples in Siberia and North Asia: comparative, historical, ethno -social and genomic analysis», the Sakha Republic President Grant #80 for Young Researchers in 2015 (Medical Sciences) (RP №80 from 05.02.2015), and Project GK №6.656.2014/K of Ministry of Education and Science of Russia.
About the Authors
F. M. Teryutin
FSBSI «Yakut scientific centre of complex medical problems»
Russian Federation
Russian Federation
Fedor M. Terjutin - junior researcher.
N. A. Barashkov
FSBSI «Yakut scientific centre of complex medical problems»
Russian Federation
Russian Federation
Nikolay A. Barashkov – cand. biol. sciences, head of lab.
N. L. Kunelskaya
SBEH «Moscow research clinical institute of otolaryngology of L.I. Sverzhevsky» of the Department of public health of Moscow
Russian Federation
Russian Federation
Natalia L. Kunelskaya – doctor of med. sciences, prof., deputy director on scientific work.
V. G. Pshennikova
FSBSI «Yakut scientific centre of complex medical problems»
Russian Federation
Russian Federation
Vera G. Pshennikova – researcher.
A. V. Solovyev
FSAEI HPE «Northeast federal university of M.K. Ammosov»
Russian Federation
Russian Federation
Aisen V. Soloviev – engineer.
L. A. Klarov
FSBSI of cytology and genetics SB RAMS; SBE RS (Y) RH №2 - Center of urgent medical aid
Russian Federation
Russian Federation
Leonid A. Klarov - doctor radiologist.
Novosibirsk
A. A. Kozhevnikov
FSBSI of cytology and genetics SB RAMS; SBE RS (Y) RH №2 - Center of urgent medical aid
Russian Federation
Russian Federation
Andrey A. Kozhevnikov - doctor, professional pathologist, chief non-staff profathologist of MH RS (Y).
Novosibirsk
L. M. Vasilyeva
SBI RS(Y) «RH №1-National Cantre of Medicine»
Russian Federation
Russian Federation
Lena M. Vasilieva – teacher of the deaf and hard of hearing.
E. E. Fedotova
SBI RS(Y) «RH №1-National Cantre of Medicine»
Russian Federation
Russian Federation
Elvira E. Fedotova – cand. med. sciences, doctor, surdologist -otolaringologist, chief non-staff surdologist MH RS (Y).
G. P. Romanov
FSAEI HPE «Northeast federal university of M.K. Ammosov»
Russian Federation
Russian Federation
Georgiy P. Romanov - lab. Researcher.
N. N. Gotovtsev
FSBSI «Yakut scientific centre of complex medical problems»
Russian Federation
Russian Federation
Nurgun N. Gotovsev – junior researcher.
M. V. Pak
FSAEI HPE «Northeast federal university of M.K. Ammosov»
Russian Federation
Russian Federation
Maria V. Pak - post-graduate student.
S. N. Lekhanova
FSAEI HPE «Northeast federal university of M.K. Ammosov»
Russian Federation
Russian Federation
Sargylana N. Lekhanova - к.м.н., senior lecturer.
I. V. Morozov
FSBSI of chemical biologies and fundamental medicine SB RAMS, the Center of collective using "Genomika"
Russian Federation
Russian Federation
Igor V. Morozov – cand. biol. sciences, senior researcher.
Novosibirsk
A. A. Bondar
FSBSI of chemical biologies and fundamental medicine SB RAMS, the Center of collective using "Genomika"
Russian Federation
Russian Federation
Alexander A. Bondar – cand. chemical sciences, senior researcher.
Novosibirsk
N. A. Solovyeva
FSBSI «Yakut scientific centre of complex medical problems»
Russian Federation
Russian Federation
Natalia A. Solovieva – cand. med. sciences, junior researcher.
A. M. Rafailov
FSAEI HPE «Northeast federal university of M.K. Ammosov»
Russian Federation
Russian Federation
Adjum M. Rafailov – cand. biol. sciences, senior lecturer.
A. N. Alekseev
FSBSI on humanitarian researches and problems of small numbered North people SB RAMS
Russian Federation
Russian Federation
Anatoly N. Alekseev – doctor of historical sciences, prof., director.
O. L. Posukh
FSBSI of chemical biologies and fundamental medicine SB RAMS, the Center of collective using "Genomika"
Russian Federation
Russian Federation
Olga L. Posukh – cand. biol. sciences, senior researcher.
Novosibirsk
L. U. Dzhemileva
FSBSI «Institute of biochemistry and genetics SC SB RAMS»
Russian Federation
Russian Federation
Lilia U. Dzhemileva – docror med. sciences, senior researcher.
Ufa
E. K. Husnutdinova
FSBSI «Institute of biochemistry and genetics SC SB RAMS»
Russian Federation
Russian Federation
Elza K. Husnutdinova – doctor of biol. sciences, prof., head of the Department og genetics.
Ufa
S. A. Fedorova
FSAEI HPE «Northeast federal university of M.K. Ammosov»
Russian Federation
Russian Federation
Sardana A. Fedorova – doctor biol. sciences, head of the scientific lab. of molecular biology.
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Review
For citations:
Teryutin F.M., Barashkov N.A., Kunelskaya N.L., Pshennikova V.G., Solovyev A.V., Klarov L.A., Kozhevnikov A.A., Vasilyeva L.M., Fedotova E.E., Romanov G.P., Gotovtsev N.N., Pak M.V., Lekhanova S.N., Morozov I.V., Bondar A.A., Solovyeva N.A., Rafailov A.M., Alekseev A.N., Posukh O.L., Dzhemileva L.U., Husnutdinova E.K., Fedorova S.A. Variability of auditory threshold at deaf patients with splice site c.-23+1G>A mutation in GJB2 gene (Konneksin 26). Yakut Medical Journal. 2015;(2):100-102.
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