title: [Medico-genetic studies of the Kostroma oblast population. X. Load of hereditary diseases in the population of Kostroma].
abstract: Medical-genetic study of the population of Kostroma (the total size of the population analysed approx. 250,000) was carried on. The load of hereditary diseases in the population (per 1000) was 0.75 for autosomal dominant, 0.49 for autosomal recessive and 0.17 for X-linked recessive disorders. Significant differences in the prevalence of autosomal recessive hereditary disorders between rural populations and the population of Kostroma were observed. The dependence of the load of autosomal recessive pathology on random inbreeding was shown for the whole Kostroma province.
authors.forename: M V
authors.initials: MV
authors.lastname: Khisamova
authors.forename: A N
authors.initials: AN
authors.lastname: Petrin
authors.forename: E K
authors.initials: EK
authors.lastname: Ginter
authors.forename: G M
authors.initials: GM
authors.lastname: Paradeeva
authors.forename: O V
authors.initials: OV
authors.lastname: Khlebnikova
mesh_terms: D005799:Genes, Dominant; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000453:epidemiology*; D008040:Genetic Linkage; D005826:Genetics, Medical; D006801:Humans; D012424:Rural Population; D012426:Russia; D014505:Urban Population; D014960:X Chromosome
vernacular_title: Mediko-geneticheskoe izuchenie naseleniia Kostromskoĭ oblasti. Soobshchenie X. Otiagoshchennost' nasledstvennoĭ patologieĭ neseleniia g. Kostroma.