[Epidemiology of hereditary diseases in Russian population].
The results of genetic epidemiological investigations performed in different regions of Russia are presented. The size of the population surveyed is over 1.5 million persons. The prevalence rates of autosomal dominant, autosomal recessive, and X-linked recessive disorders in Russia were first assessed. It has been shown that there is a clear genetic differentiation in the prevalence rates of autosomal recessive disorders for some of the populations studied. A correlation between random inbreeding and the prevalence of recessive and dominant disorders is not only significant, but very high and the differences in random inbreeding values are a main reason of this genetic differentiation in Russia's populations. A wide spectrum of hereditary diseases is found. This includes 115 autosomal dominant, 125 autosomal recessive, and above 30 X-linked recessive hereditary disorders. Only a small part of this spectrum occurs at a rate of 1:50,000 or greater; however, it is these disorders that determine a considerable proportion (more than 50%) of all forms of hereditary disorders. A small share of the hereditary diseases revealed shows a local accumulation, which can be also explained by a gene drift. The influence of the revealed regularities in the distribution of hereditary disorders in the populations of Russia on the organization of genetic service in the country is considered.
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D030342:Genetic Diseases, Inborn / Q000453:epidemiology* / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D015994:Incidence; D011159:Population Surveillance; D012426:Russia / Q000453:epidemiology; D014960:X Chromosome