Study of the hereditary non-syndromic ophthalmological pathology of child population of the Karachay-Cherkess Republic: estimations of genetic load and molecular genetic analysis
<br> V.V. Kadyshev<sup>1</sup>, A.V. Marakhonov<sup>1</sup>, S.I. Kutsev<sup>1,2</sup>, R.A. Zinchenko<sup>1,3</sup><br> <sup>1</sup> Research Centre of Medical Genetics of the Russian Academy of Medical Sciences, Moscow,&...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Prime-Media
2018-09-01
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| Series: | РМЖ "Клиническая офтальмология" |
| Online Access: | http://clinopht.com/upload/iblock/d4b/d4b5b76d5d1b8e5e617f04638f15a14a.pdf |
| _version_ | 1797295012913872896 |
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| author | V.V. Kadyshev A.V. Marakhonov S.I. Kutsev R.A. Zinchenko |
| author_facet | V.V. Kadyshev A.V. Marakhonov S.I. Kutsev R.A. Zinchenko |
| author_sort | V.V. Kadyshev |
| collection | DOAJ |
| description | <br>
V.V. Kadyshev<sup>1</sup>, A.V. Marakhonov<sup>1</sup>, S.I. Kutsev<sup>1,2</sup>, R.A. Zinchenko<sup>1,3</sup><br>
<sup>1</sup> Research Centre of Medical Genetics of the Russian Academy of Medical Sciences, Moscow, Russian Federation<br>
<sup>2</sup> Pirogov Russian National Research Medical University, Moscow, Russian Federation<br>
<sup>3</sup> M. F. Vladimirsky Moscow Regional Research and Clinical Institute (MONIKI), Moscow, Russian Federation<br>
<br>
<b>Abstract</b><br>
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.<br>
<b>Aim</b>: 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.<br>
<b>Patients and Methods:</b> 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.<br>
<b>Results</b>: 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.<br>
<b>Conclusions</b>: 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.<br>
<br>
<b>Key words:</b> epidemiology, genetics, genetic load, DNA diagnosis, children, Karachay-Cherkess Republic.<br>
<b>For citation:</b> 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.<br>
<br> |
| first_indexed | 2024-03-07T21:39:27Z |
| format | Article |
| id | doaj.art-5c98419cbdb943a9b0068dd588c6e739 |
| institution | Directory Open Access Journal |
| issn | 2311-7729 2619-1571 |
| language | Russian |
| last_indexed | 2024-03-07T21:39:27Z |
| publishDate | 2018-09-01 |
| publisher | Prime-Media |
| record_format | Article |
| series | РМЖ "Клиническая офтальмология" |
| spelling | doaj.art-5c98419cbdb943a9b0068dd588c6e7392024-02-26T10:12:11ZrusPrime-MediaРМЖ "Клиническая офтальмология"2311-77292619-15712018-09-0118315793Study of the hereditary non-syndromic ophthalmological pathology of child population of the Karachay-Cherkess Republic: estimations of genetic load and molecular genetic analysisV.V. Kadyshev0A.V. Marakhonov1S.I. Kutsev2R.A. Zinchenko3Russian Journal of Clinical Ophthalmology, Publisher of «Medicina-Inform» Address for correspondence: Russia, 105064, Moscow, P.O. Box 399Russian Journal of Clinical Ophthalmology, Publisher of «Medicina-Inform» Address for correspondence: Russia, 105064, Moscow, P.O. Box 399Russian Journal of Clinical Ophthalmology, Publisher of «Medicina-Inform» Address for correspondence: Russia, 105064, Moscow, P.O. Box 399Russian Journal of Clinical Ophthalmology, Publisher of «Medicina-Inform» Address for correspondence: Russia, 105064, Moscow, P.O. Box 399<br> V.V. Kadyshev<sup>1</sup>, A.V. Marakhonov<sup>1</sup>, S.I. Kutsev<sup>1,2</sup>, R.A. Zinchenko<sup>1,3</sup><br> <sup>1</sup> Research Centre of Medical Genetics of the Russian Academy of Medical Sciences, Moscow, Russian Federation<br> <sup>2</sup> Pirogov Russian National Research Medical University, Moscow, Russian Federation<br> <sup>3</sup> M. F. Vladimirsky Moscow Regional Research and Clinical Institute (MONIKI), Moscow, Russian Federation<br> <br> <b>Abstract</b><br> 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.<br> <b>Aim</b>: 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.<br> <b>Patients and Methods:</b> 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.<br> <b>Results</b>: 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.<br> <b>Conclusions</b>: 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.<br> <br> <b>Key words:</b> epidemiology, genetics, genetic load, DNA diagnosis, children, Karachay-Cherkess Republic.<br> <b>For citation:</b> 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.<br> <br>http://clinopht.com/upload/iblock/d4b/d4b5b76d5d1b8e5e617f04638f15a14a.pdf |
| spellingShingle | V.V. Kadyshev A.V. Marakhonov S.I. Kutsev R.A. Zinchenko Study of the hereditary non-syndromic ophthalmological pathology of child population of the Karachay-Cherkess Republic: estimations of genetic load and molecular genetic analysis РМЖ "Клиническая офтальмология" |
| title | Study of the hereditary non-syndromic ophthalmological pathology of child population of the Karachay-Cherkess Republic: estimations of genetic load and molecular genetic analysis |
| title_full | Study of the hereditary non-syndromic ophthalmological pathology of child population of the Karachay-Cherkess Republic: estimations of genetic load and molecular genetic analysis |
| title_fullStr | Study of the hereditary non-syndromic ophthalmological pathology of child population of the Karachay-Cherkess Republic: estimations of genetic load and molecular genetic analysis |
| title_full_unstemmed | Study of the hereditary non-syndromic ophthalmological pathology of child population of the Karachay-Cherkess Republic: estimations of genetic load and molecular genetic analysis |
| title_short | Study of the hereditary non-syndromic ophthalmological pathology of child population of the Karachay-Cherkess Republic: estimations of genetic load and molecular genetic analysis |
| title_sort | study of the hereditary non syndromic ophthalmological pathology of child population of the karachay cherkess republic estimations of genetic load and molecular genetic analysis |
| url | http://clinopht.com/upload/iblock/d4b/d4b5b76d5d1b8e5e617f04638f15a14a.pdf |
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