Enviar artigo por via de e-mail Hereditary Disorders in Circassians of the Karachay-Cherkess Republic
- Autores: Zinchenko R.A.1,2, Makaov A.K.3, Galkina V.A.1, Dadali E.L.1,2, Khlebnikova O.V.1, El’chinova G.I.1,4, Mikhailova L.K.5, Marakhonov A.V.1,6, Vasilyeva T.A.1, Gundorova P.1, Tanas A.S.1,2, Strelnikov V.V.1,2, Polyakov A.V.1, Ginter E.K.1
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Afiliações:
- Research Centre for Medical Genetics
- Pirogov Russian National Research Medical University
- Municipal Budgetary Health Care Setting Habezskaya Central District Hospital
- Evdokimov Moscow State University of Medicine and Dentistry
- Priorov Central Research Institute of Traumatology and Orthopedics
- Moscow Institute of Physics and Technology
- Edição: Volume 54, Nº 1 (2018)
- Páginas: 83-90
- Seção: Medical Genetics
- URL: https://journals.rcsi.science/1022-7954/article/view/188775
- DOI: https://doi.org/10.1134/S1022795418010155
- ID: 188775
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Resumo
The paper aims to review the diversity of monogenic hereditary disorders (MHD) in the Circassians of the Karachay-Cherkess Republic (KCR). In total, 50817 Circassians were investigated. The populations of eight districts (Ust-Dzhegutinsky, Karachayevsky, Malokarachayevsky, Prikubansky, Khabezsky, Abazinsky, Nogaysky, and Adyge-Khablsky) and of the city of Cherkessk were studied. Two hundred fifty patients from 167 families were registered. The prevalence of MHD in Circassians happens to be 1: 214. The nosological spectrum of MHD in Circassians includes 70 disorders: 34 with autosomal dominant, 25 with autosomal recessive, and 11 with X-linked inheritance patterns. Confirmatory DNA diagnostics was performed in 56 patients. Accumulation of particular diseases in the Circassian population was revealed in comparison with the previously surveyed ethnic groups/populations of Russia. The cluster analysis was performed on the basis of the prevalence of AD and AR disorders and determined the genogeographic position of the Circassians among eight ethnic groups of Russia (13 populations in total). The total size of the surveyed populations was over 3.5 million people: six Russian regions, Tatars of the Tatarstan, Bashkirs of the Bashkortostan, Chuvashs of the Chuvash Republic, Maris of the Mari El Republic, Udmurts of the Udmurt Republic, Adygeans of the Republic of Adygea, and Circassians of the Karachay-Cherkess Republic. The general pattern for AD and AR diseases was similar: six Russian populations group within a single cluster, being remote from people of the Volga-Ural region and the North Caucasus (Adyghe: Adygeans and Circassians).
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Sobre autores
R. Zinchenko
Research Centre for Medical Genetics; Pirogov Russian National Research Medical University
Autor responsável pela correspondência
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478; Moscow, 117997
A. Makaov
Municipal Budgetary Health Care Setting Habezskaya Central District Hospital
Email: renazinchenko@mail.ru
Rússia, Habez, 369400
V. Galkina
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478
E. Dadali
Research Centre for Medical Genetics; Pirogov Russian National Research Medical University
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478; Moscow, 117997
O. Khlebnikova
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478
G. El’chinova
Research Centre for Medical Genetics; Evdokimov Moscow State University of Medicine and Dentistry
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478; Moscow, 127473
L. Mikhailova
Priorov Central Research Institute of Traumatology and Orthopedics
Email: renazinchenko@mail.ru
Rússia, Moscow, 127299
A. Marakhonov
Research Centre for Medical Genetics; Moscow Institute of Physics and Technology
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478; Dolgoprudny, Moscow oblast, 141701
T. Vasilyeva
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478
P. Gundorova
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478
A. Tanas
Research Centre for Medical Genetics; Pirogov Russian National Research Medical University
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478; Moscow, 117997
V. Strelnikov
Research Centre for Medical Genetics; Pirogov Russian National Research Medical University
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478; Moscow, 117997
A. Polyakov
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478
E. Ginter
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
Rússia, Moscow, 115478
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