Отправить статью по E-mail Medical Genetic Study of Hereditary Diseases in Abazins of the Karachay-Cherkess Republic
- Авторы: Zinchenko R.A.1,2, Makaov A.K.3, Kadyshev V.V.1, Galkina V.A.1, Dadali E.L.1,2, Shurygina M.F.4, El’chinova G.I.1,5, Mikhailova L.K.6, Marakhonov A.V.1,7, Vasilyeva T.A.1, Petrova N.V.1, Gundorova P.1, Tanas A.S.1,2, Strelnikov V.V.1,2, Polyakov A.V.1, Ginter E.K.1
-
Учреждения:
- 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
- Выпуск: Том 54, № 6 (2018)
- Страницы: 703-711
- Раздел: Human Genetics
- URL: https://journals.rcsi.science/1022-7954/article/view/189023
- DOI: https://doi.org/10.1134/S1022795418060170
- ID: 189023
Цитировать
Открытый доступ
Доступ предоставлен
Только для подписчиков
Аннотация
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.
Ключевые слова
Об авторах
R. Zinchenko
Research Centre for Medical Genetics; Pirogov Russian National Research Medical University
Автор, ответственный за переписку.
Email: renazinchenko@mail.ru
Россия, Moscow, 115522; Moscow, 117997
A. Makaov
Habezs Central District Hospital
Email: renazinchenko@mail.ru
Россия, Habez, 369400
V. Kadyshev
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
Россия, Moscow, 115522
V. Galkina
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
Россия, Moscow, 115522
E. Dadali
Research Centre for Medical Genetics; Pirogov Russian National Research Medical University
Email: renazinchenko@mail.ru
Россия, Moscow, 115522; Moscow, 117997
M. Shurygina
Fyodorov Eye Microsurgery Complex
Email: renazinchenko@mail.ru
Россия, Moscow, 127486
G. El’chinova
Research Centre for Medical Genetics; Moscow State University of Medicine and Dentistry
Email: renazinchenko@mail.ru
Россия, Moscow, 115522; Moscow, 127473
L. Mikhailova
Priorov Central Research Institute of Traumatology and Orthopedics
Email: renazinchenko@mail.ru
Россия, Moscow, 127299
A. Marakhonov
Research Centre for Medical Genetics; Moscow Institute of Physics and Technology
Email: renazinchenko@mail.ru
Россия, Moscow, 115522; Moscow oblast, Dolgoprudny, 141701
T. Vasilyeva
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
Россия, Moscow, 115522
N. Petrova
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
Россия, Moscow, 115522
P. Gundorova
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
Россия, Moscow, 115522
A. Tanas
Research Centre for Medical Genetics; Pirogov Russian National Research Medical University
Email: renazinchenko@mail.ru
Россия, Moscow, 115522; Moscow, 117997
V. Strelnikov
Research Centre for Medical Genetics; Pirogov Russian National Research Medical University
Email: renazinchenko@mail.ru
Россия, Moscow, 115522; Moscow, 117997
A. Polyakov
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
Россия, Moscow, 115522
E. Ginter
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
Россия, Moscow, 115522
Дополнительные файлы
