Abstract
The results of analysis of the diversity of monogenic hereditary diseases (MHDs) in the Russian population of ten regions of the Russian Federation with different ethnic extraction—five with the indigenous residence and five in ethnic populations of the Volga region—are presented. A comparative analysis of the diversity of MHDs in the Russian population of ten regions with the diversity of MHDs in ten ethnic groups was carried out. The total number of the surveyed population was 2.837 million people (including 1.624 million Russians and 1.213 million representatives of ten different ethnic groups). The diversity of MHDs was 480 diseases diagnosed in 8355 patients. The spectrum and prevalence of frequent diseases were determined. A comparative analysis of genogeographic relationships between twenty ethnic groups/populations for the prevalence of 201 autosomal recessive diseases was carried out. It was shown that, despite the intense miscegenation of Russians with the indigenous population of the Volga region, the gene pool of Russians for MHD genes is preserved under the positive ethnic mating assortativity.
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This work was financially supported by the Russian Foundation for Basic Research (project no. 20-015-00061) and by the State Task of the Ministry of Education and Science of the Russian Federation.
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Zinchenko, R.A., Ginter, E.K., Kadyshev, V.V. et al. Diversity of Monogenic Hereditary Diseases in the Russian Population of the Volga-Ural Region. Russ J Genet 57, 1356–1359 (2021). https://doi.org/10.1134/S1022795421110168
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DOI: https://doi.org/10.1134/S1022795421110168