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Article in International Journal of Molecular Sciences

International Journal of Molecular Sciences (Impact Factor 4.183, Q2) published an article by FBSI RCMG Genetic Epidemiology Laboratory (headed by Prof. R.A. Zinchenko, Doctor of med. sci.):

«Epidemiology of hereditary diseases in Karachay-Cherkess Republic»

Zinchenko, R.A., Makaov, A.Kh., Marakhonov, A.V., Galkina, V.A., Kadyshev, V.V., El’chinova, G.I., Dadali, E.L., Mikhailova, L.K., Petrova, N.A., Petrina, N.E., Vasilyeva, T.A., Gundorova, P., Polyakov, A.V., Alexandrova, O.U., Kutsev, S.I., Ginter, E.K.

The publication is devoted to the results of a comprehensive genetic and epidemiological study of hereditary diseases (HD) in the population of the Karachay-Cherkess Republic. A medical genetic screening of 410,367 people was performed for the HD detection. Five ethnic groups were examined: the Karachais, Russians, Circassians, Abazins, Nogais. 1849 patients (from 1295 families) were HD diagnosed, and 230 nosological forms were identified.

For the first time, differentiation in the values of HD severity and diversity is described, and frequent diseases for different ethnic groups are identified. Genetic heterogeneity of HD was found, both allelic and locus. The article shows influence of genetic drift and subdivision of populations.

International Journal of Molecular Sciences. Int. J. Mol. Sci. 2020, 21(1), 325; doi:10.3390/ijms21010325