title: [Medico-genetic study of the population of Uzbekistan. VIII. Territorial distribution of hereditary diseases in the population of four regions of the Khorezm province and its genetic load].
abstract: The load of hereditary diseases was estimated on the basis of data obtained during medical-genetic study of the population of four districts of Khorezm province. The load of autosomal recessive disorders comprised 2-3 X 10(-3) affected, that of autosomal dominant disorders - 0.4-0.5 X 10(-3) and that of X-linked disorders - 0.2-0.4 X 10(-3) males. The main part of patients with autosomal recessive disorders belonged to separate families randomly spread over the populations. A trend for local accumulation of families with the same disorder was observed in small populations. It was shown that overall frequency of autosomal recessive genes per individual increased with the increase in the population size.
mesh_terms: D005787:Gene Frequency; D005799:Genes, Dominant; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000453:epidemiology*; D005828:Genetics, Population; D006801:Humans; D009154:Mutation; D014610:Uzbekistan
vernacular_title: Mediko-geneticheskoe izuchenie naseleniia Uzbekistana. Soobshchenie VIII. Territorial'noe raspredelenie nasledstvennykh bolezneĭ v naselenii chetyrekh raĭonov Khorezmskoĭ oblasti i ego otiagoshchennost' nasledstvennoĭ patologieĭ.