title: [Medico-genetical study of the population of the Kostroma Region. IV. Genetic load and diversity of hereditary pathology in 5 districts].
abstract: Data on the prevalence of hereditary diseases in five regions of the Kostroma province were obtained and analysed. 28 autosomal recessive, 25 autosomal dominant and 4 X-linked recessive disorders were found. Segregation analysis proved the rightness of the material subdivision, according to the type of inheritance. The load of hereditary diseases in five regions was: 0.86 +/- 0.09 X 10(3) for autosomal recessive, 0.97 +/- 0.1 X 10(3) for autosomal dominant and 0.36 +/- 0.09 X 10(3) for X-linked recessive disorders. The problems of prevalence of hereditary diseases connected with population structure is discussed.
mesh_terms: D005260:Female; D005787:Gene Frequency; D005799:Genes, Dominant; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000453:epidemiology* / Q000235:genetics; D008040:Genetic Linkage; D014644:Genetic Variation; D006801:Humans; D008297:Male; D012426:Russia; D014960:X Chromosome
vernacular_title: Mediko-geneticheskoe izuchenie naseleniia Kostromskoĭ oblasti. Soobshchenie IV. Otiagoshchennost' i raznoobrazie nasledstvennoĭ patologii v piati raĭonakh oblasti.