Study of the hereditary non-syndromic ophthalmological pathology of child population of the Karachay-Cherkess Republic: estimations of genetic load and molecular genetic analysis
| Autor: | V.V. Kadyshev, A.V. Marakhonov, S.I. Kutsev, R.A. Zinchenko |
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| Jazyk: | ruština |
| Rok vydání: | 2018 |
| Předmět: | |
| Zdroj: | РМЖ "Клиническая офтальмология", Vol 18, Iss 3 (2018) |
| Druh dokumentu: | article |
| ISSN: | 2311-7729 2619-1571 |
| Popis: | V.V. Kadyshev1, A.V. Marakhonov1, S.I. Kutsev1,2, R.A. Zinchenko1,3 1 Research Centre of Medical Genetics of the Russian Academy of Medical Sciences, Moscow, Russian Federation 2 Pirogov Russian National Research Medical University, Moscow, Russian Federation 3 M. F. Vladimirsky Moscow Regional Research and Clinical Institute (MONIKI), Moscow, Russian Federation Abstract The publication continues the previously presented data on the study of the epidemiology of ophthalmic diseases in the children of the Karachay-Cherkess Republic. Genetic epidemiological study of the population includes the study of a wide range of aspects. The structure of the nosological spectrum was published previously. The study of the genetic load is an integral part of this work. Aim: the purpose of this study was to investigate the specific features of the genetic load of hereditary non-syndromic ophthalmologic pathology in the population of the Karachay-Cherkess Republic. Patients and Methods: 90 793 children from 10 districts of the Karachay-Cherkess Republic aged 0–18 were examined, of which 121 were included in the sample. The biomaterial (peripheral venous blood) is taken from a part of patients taking into account the legislative and legal standards of the Russian Federation. In the study, genetic-epidemiological, statistical, molecular-genetic methods of examination were used. Results: the values of genetic load of non-syndromic hereditary eye pathology in the child population of 10 districts of the Karachay-Cherkess Republic and the city of Cherkessk is established. The total load of the non-syndromic hereditary pathology of the eye was 1.33±0.12. Statistical analysis of the obtained genetic load data demonstrated significant differences between autosomal dominant pathology in rural and urban populations (for rural population — t=2.3, for urban — t=2.8). The group of patients underwent confirmatory molecular genetic diagnosis. Conclusions: 1. The genetic load of the hereditary pathology of the organ of vision in the Karachay-Cherkess Republic among children was 1.33±0.12. 2. The prevalence of AD pathology over diseases with AR inheritance in both rural and urban subpopulations was revealed. 3. Region-specific molecular genetic markers for the hereditary pathology of the organ of vision are not established at this stage. Key words: epidemiology, genetics, genetic load, DNA diagnosis, children, Karachay-Cherkess Republic. For citation: Kadyshev V.V., Marakhonov A.V., Kutsev S.I., Zinchenko R.A. Study of the hereditary non-syndromic ophthalmological pathology of child population of the Karachay-Cherkess Republic: estimations of genetic load and molecular genetic analysis. RMJ “Clinical ophthalmology”. 2018;3:134–139. |
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