Enviar artigo por via de e-mail Medical Genetic Study of Hereditary Diseases in Abazins of the Karachay-Cherkess Republic
- Autores: Zinchenko R.1,2, Makaov A.3, Kadyshev V.1, Galkina V.1, Dadali E.1,2, Shurygina M.4, El’chinova G.1,5, Mikhailova L.6, Marakhonov A.1,7, Vasilyeva T.1, Petrova N.1, Gundorova P.1, Tanas A.1,2, Strelnikov V.1,2, Polyakov A.1, Ginter E.1
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Afiliações:
- Research Centre for Medical Genetics
- Pirogov Russian National Research Medical University
- Habezs Central District Hospital
- Fyodorov Eye Microsurgery Complex
- 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 6 (2018)
- Páginas: 703-711
- Seção: Human Genetics
- URL: https://journals.rcsi.science/1022-7954/article/view/189023
- DOI: https://doi.org/10.1134/S1022795418060170
- ID: 189023
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Resumo
This paper estimates the load and nosological spectrum of monogenic hereditary diseases (HDs) in Abazins of the Karachay-Cherkess Republic (KChR), identified in Cherkessk and ten districts, Abazinsky, Ust-Dzhegutinsky, Malokarachaevsky, Karachaevsky, Prikubansky, Khabezsky, Nogaysky, Adyge-Khablsky, Urupsky, and Zelenchuksky. The number of the investigated population was 387231 individuals (including 33264 Abazins). We detected 153 patients from 105 families with 45 nosological forms of HDs: 83 patients from 50 families with 23 AD diseases, 47 patients from 42 families with 15 AR diseases, and 23 patients from 13 families with 7 X-linked diseases. The total load of HDs in Abazins was 1: 218 individuals (in the rural population 1: 162, in the urban population 1: 305). Frequent and rare nosological forms of HDs and the accumulation of certain diseases in Abazins in comparison with the previously surveyed populations of Russia were determined. On the basis of the prevalence of AD and AR hereditary diseases, a principal component analysis was carried out, which determined the genogeographical position of Abazins among nine ethnic groups (13 populations) of Russian Federation: six Russian regions, Bashkirs of the Bashkortostan, Tatars of the Tatarstan, Chuvashes of the Chuvashia, Maris of the Mari El, Udmurts of the Udmurtia, Adygeans of the Adygea, and Circassians and Abazins of the KChR.
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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, 115522; Moscow, 117997
A. Makaov
Habezs Central District Hospital
Email: renazinchenko@mail.ru
Rússia, Habez, 369400
V. Kadyshev
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
Rússia, Moscow, 115522
V. Galkina
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
Rússia, Moscow, 115522
E. Dadali
Research Centre for Medical Genetics; Pirogov Russian National Research Medical University
Email: renazinchenko@mail.ru
Rússia, Moscow, 115522; Moscow, 117997
M. Shurygina
Fyodorov Eye Microsurgery Complex
Email: renazinchenko@mail.ru
Rússia, Moscow, 127486
G. El’chinova
Research Centre for Medical Genetics; Moscow State University of Medicine and Dentistry
Email: renazinchenko@mail.ru
Rússia, Moscow, 115522; 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, 115522; Moscow oblast, Dolgoprudny, 141701
T. Vasilyeva
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
Rússia, Moscow, 115522
N. Petrova
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
Rússia, Moscow, 115522
P. Gundorova
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
Rússia, Moscow, 115522
A. Tanas
Research Centre for Medical Genetics; Pirogov Russian National Research Medical University
Email: renazinchenko@mail.ru
Rússia, Moscow, 115522; Moscow, 117997
V. Strelnikov
Research Centre for Medical Genetics; Pirogov Russian National Research Medical University
Email: renazinchenko@mail.ru
Rússia, Moscow, 115522; Moscow, 117997
A. Polyakov
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
Rússia, Moscow, 115522
E. Ginter
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
Rússia, Moscow, 115522
