Abstract
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.
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REFERENCES
Passarge, E., Color Atlas of Genetics, Stuttgart: George Thieme, 2017, 5th ed.
Bochkov, N.P., Genetics in pediatric practice, Pediatriya, 2004, no. 5, pp. 13—18.
Online Mendelian Inheritance in Man. http://www. ncbi.nlm.nih.gov/OMIM. Accessed January, 2019.
Wu Dong-Dong and Zhang Ya-Ping, Different level of population differentiation among human genes, BMC Evol. Biol., 2011, vol. 11, no. 16.https://doi.org/10.1186/1471-2148-11-16
Bessonova, L.A., El’chinova, G.I., Zinchenko, R.A., Population genetics of hereditary diseases in the child population of the Republic of Bashkortostan, Chuvashia, and Udmurtia, Russ. J. Genet., 2012, vol. 48, no. 5, pp. 644—654.
Zinchenko, R.A., El’chinova, G.I., Vetrova, N.V., et al., Epidemiology of hereditary diseases in the child population of 12 raions of Rostov oblast: the load of hereditary diseases and population genetic structure, Med. Genet., 2013, vol. 12, no. 5, pp. 21—28.
Zinchenko, R.A., Vasil’eva, T.A., El’chinova, G.I., et al., Epidemiology of hereditary diseases in the child population of 8 raions of the Republic of Tatarstan, Yakutsk. Med. Zh., 2014, no. 2, pp. 17—19.
Ginter, E.K., Zinchenko, R.A., El’chinova, G.I., et al., The role of the population dynamics factors in the hereditary pathology prevalence in Russian populations, Med. Genet., 2004, vol. 3, no. 12, pp. 548—555.
Cavalli-Sforza, L.L. and Bodmer, W.F., The Genetics of Human Populations, San Francisco: Freeman W.H., 1971.
Morton, N.E., Genetic tests under incomplete ascertainment, Am. J. Hum. Genet., 1959, vol. 11, pp. 1—16.
Orphanet Reports Series: diseases listed by decreasing prevalence or number of published cases. http://www.orpha.net/. Accessed January 26, 2019.
Dadali, E.L., Makaov, A.Kh., Galkina, V.A., et al., Hereditary motor sensory neuropathy caused by mutations in the NEFL gene in a large family from Karachay-Cherkessia, Nervno-Myshechnye Bolezni, 2016, vol. 6, no. 2, pp. 47—51. https://doi.org/10.17 650/2222-8721-2016-6-2-47-51
Petrova, N.V., Kashirskaya, N.Yu., Vasilieva, T.A., et al., High proportion of W1282X mutation in CF patients from Karachai-Cherkessia, J. Cystic Fibrosis, 2016, vol. 15, no. 3, pp. e28—e32. https://doi.org/10.1016/j.jcf.2016.02.003
Gundorova, P., Zinchenko, R.A., Makaov, A.Kh., and Polyakov, A.V., The spectrum of mutations in the PAH gene in patients with hyperphenylalaninemia from the Karachay-Cherkess Republic, Russ. J. Genet., 2017, vol. 53, no. 7, pp. 813—819. https://doi.org/10.1134/S1022795417070043
Gundorova P., Zinchenko R.A., Kuznetsova I.A. et al. Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus, PLoS One, 2018, vol. 13, no. 8. e0201489. https://doi.org/10.1371/journal.pone.0201489
Zinchenko, R.A., El’chinova, G.I., and Ginter, E.K., Factors determining the distribution of hereditary diseases in Russian populations, Med. Genet., 2009, vol. 8, no. 12, pp. 7—23.
Crow, J.F., Surnames as biological marker, Hum. Biol., 1983, vol. 55, pp. 383—397.
El'chinova, G.I., Makaov, A.Kh., Petrin, A.N., and Zinchenko, R.A., Marriage ethnic assortative mating of urban and rural population of Karachay-Cherkessia, Russ. J. Genet., 2017, vol. 53, no. 7, pp. 838—841. https://doi.org/10.1134/S1022795417060059
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This work was supported by the Russian Foundation for Basic Research (project no. 18-015-00090) and State task of the Ministry of Education and Science of the Russian Federation.
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Zinchenko, R.A., Kadyshev, V.V., Galkina, V.A. et al. Clinical Population Genetics of Hereditary Diseases among Children of the Karachay-Cherkess Republic. Russ J Genet 55, 1033–1040 (2019). https://doi.org/10.1134/S1022795419080180
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DOI: https://doi.org/10.1134/S1022795419080180