Email this article Hereditary disturbance hearing, associated with A1555G mutation in the gene 12S rRNA in mitochondrial DNA
- Authors: Zhuravski S.G.1, Sirotkina О.V.2, Sethiyasiilan Т.1, Kudinov S.V.2, Demidova D.V.1, Degtyaryova J.A.1, Lopotko A.I.1, Ptshelina S.N.1
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Affiliations:
- I. P. Pavlov State University
- В. P. Konstantinov Institute of Nuclear Physics of the RAS
- Issue: Vol 4, No 2 (2004)
- Pages: 62-66
- Section: Basis medicine
- Published: 15.06.2004
- URL: https://journals.eco-vector.com/MAJ/article/view/692931
- ID: 692931
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Abstract
60 patients with different ethiopathogenic non-syndromic sensoryneural hearing loss were screened for A1555G point mutation in 12s ribosomal RNA gene of mitochondrial DNA, a reason for hereditary non-syndromic hearing loss. Mutation were found in two patients (∼3,3%) with different phenotypic hearing loss: aminoglycoside ototoxicity in the adult age and sensoryneural hearing loss without a clear ethiology from childhood. In both cases we noticed nonsyndromic, postlingual, bilateral, symmetricand progressive sensory neural hearing loss of III-IV degree. As well as the presence of hearing impairment in blood relatives. Similar mutation in mitochondrial gene as a cause different phenotypic variants of sensory neural hearing loss was studied among various ethnic groups and was revealed for the first time among population of the europion region of Russia.
About the authors
S. G. Zhuravski
I. P. Pavlov State University
Author for correspondence.
Email: shabanov@mail.rcom.ru
Russian Federation, Saint Petersburg
О. V. Sirotkina
В. P. Konstantinov Institute of Nuclear Physics of the RAS
Email: shabanov@mail.rcom.ru
Russian Federation, Gatchina
Т. Sethiyasiilan
I. P. Pavlov State University
Email: shabanov@mail.rcom.ru
Russian Federation, Saint Petersburg
S. V. Kudinov
В. P. Konstantinov Institute of Nuclear Physics of the RAS
Email: shabanov@mail.rcom.ru
Russian Federation, Gatchina
D. V. Demidova
I. P. Pavlov State University
Email: shabanov@mail.rcom.ru
Russian Federation, Saint Petersburg
J. A. Degtyaryova
I. P. Pavlov State University
Email: shabanov@mail.rcom.ru
Russian Federation, Saint Petersburg
A. I. Lopotko
I. P. Pavlov State University
Email: shabanov@mail.rcom.ru
Russian Federation, Saint Petersburg
S. N. Ptshelina
I. P. Pavlov State University
Email: shabanov@mail.rcom.ru
Russian Federation, Saint Petersburg
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Supplementary files
СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).