Abstract
The load and diversity of monogenic hereditary diseases (HD) among the Russians of the Karachaevo-Cherkess Republic (KCR), living in 10 rural districts and two cities, have been studied. The total size of the investigated population of the Republic was 410,367 people, including Russians — 134,756. In total, 385 Russian KCR patients from 281 families were registered. Load AD, AR and X-linked diseases in rural districts (3.01 ± 0.32, 1.98 ± 0.26 and 1.23 ± 0.29) are more than twice higher in cities (1.00 ± 0.10, 0.89 ± 0.09 and 0.42 ± 0.09). The diversity of HD was 99 nosological forms: 56 diseases with AD type of inheritance (193 patients from 126 families), 31 diseases with AR (152 patients out of 124 families) and 12 diseases with X-linked type of inheritance (40 affected from 31 families). A comparative analysis of the diversity of AD and AR of the National AB with the previously studied populations / ethnos of the European part of Russia (Russians in 7 regions, 5 ethnic groups of the Volga-Ural and 5 ethnic groups of the North Caucasus) was conducted, showed that Russians in the KCR retained a significant similarity of the «pathological» gene pool with the Russians of others populations and its difference from the same gene pool of Karachays and Circassians.
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