Enviar artigo por via de e-mail Clinical Population Genetics of Hereditary Diseases among Children of the Karachay-Cherkess Republic
- Autores: Zinchenko R.A.1,2, Kadyshev V.V.1, Galkina V.A.1, Dadali E.L.1,2, Mikhailova L.K.3, Marakhonov A.V.1, Petrova N.V.1, Petrina N.E.1, El’chinova G.I.1, Alexandrova O.Y.4, Kutsev S.I.1,2, Ginter E.K.1
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Afiliações:
- Research Centre for Medical Genetics
- Pirogov Russian National Research Medical University
- Priorov Central Research Institute of Traumatology and Orthopedics
- Vladimirskii Moscow Regional Research and Clinical Institute
- Edição: Volume 55, Nº 8 (2019)
- Páginas: 1033-1040
- Seção: Human Genetics
- URL: https://journals.rcsi.science/1022-7954/article/view/189516
- DOI: https://doi.org/10.1134/S1022795419080180
- ID: 189516
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Resumo
The results of genetic and epidemiological study of monogenic hereditary diseases (HD) among children of the Karachay-Cherkess Republics are presented. The surveyed population comprised 410 368 individuals (Cherkessk and ten rural areas), including 90 739 children (22.11%). The examination was performed following the original protocol for genetic-epidemiological studies (developed by the Research Centre for Medical Genetics) making it possible to register not less than 3500 HD and syndromes. One hundred eighty-three nosological forms of HD (922 patients from 764 families) were registered in the child population, including 100 patients with AD (459 patients from 366 families), 60 patients with AR (372 patients from 326 families), and 23 patients with X-linked inheritance (91 patients from 72 families). The structure of diversity is determined, and frequent HDs are described in accordance with the main classification by organ and systemic types of disease: neurological, ophthalmic, genodermatoses, skeletal, hereditary syndromes, and other pathology. There were 55 frequent HDs (30.05%)—the number of patients in this group was 739 (80.15% of sick children). The load of AD, AR, and X-linked pathology for urban and rural child population was calculated. Differences in HD load were identified. On the basis of correlations between the load and FST, the causes of the observed differentiation of subpopulations were proposed.
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
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
L. Mikhailova
Priorov Central Research Institute of Traumatology and Orthopedics
Email: renazinchenko@mail.ru
Rússia, Moscow, 127299
A. Marakhonov
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
N. Petrina
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
Rússia, Moscow, 115522
G. El’chinova
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
Rússia, Moscow, 115522
O. Alexandrova
Vladimirskii Moscow Regional Research and Clinical Institute
Email: renazinchenko@mail.ru
Rússia, Moscow, 129110
S. Kutsev
Research Centre for Medical Genetics; Pirogov Russian National Research Medical University
Email: renazinchenko@mail.ru
Rússia, Moscow, 115522; Moscow, 117997
E. Ginter
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
Rússia, Moscow, 115522
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