Features of the diversity of hereditary diseases in different regions and multiethnic populations of the Russian Federation

Abstract

The results of genetic and epidemiological studies of hereditary diseases (HD) in 14 regions of the European part of Russia, the South of Russia, the North Caucasus, the Volga-Ural region, with a total population of about 4 million people surveyed were analyzed. Spatial variability and genetic heterogeneity of HD in the population of different regions and in multi-ethnic populations of Russia have been studied. Frequent HD that are typical for the entire population of specific regions, as well as diseases specific to individual ethnic groups were identified. Significant heterogeneity of populations and ethnic groups, both allelic and locus, has been detected. Novel previously undescribed HD which are endemic for specific ethnic groups have been registered. It was shown that in populations with different ethnic extraction each ethnic group in its gene pool has preserved specific spectrum, prevalence and genetic nature of HD. Complex multifaceted analysis allowed us to approach the fundamental problem of medical genetics - the evolution of HD in different populations and ethnic groups.