title: [Medical genetics study of the population of Kostroma Province. II. The diversity of hereditary pathology in 5 districts of the province].
abstract: The diversity of hereditary pathology in 5 regions of Kostroma district was studied. 32 nosological forms of autosomal dominant, 30 autosomal recessive and 7 X-linked recessive disorders were found. The most frequent autosomal dominant disorders were: neurofibromatosis, pigmentary degeneration of retina, hypochondroplasia, ichtiosis, idiopathic scoliosis. The most frequent among the autosomal recessive disorders were: oligophrenia, pigmentary degeneration of retina, muscular atrophy of juvenile Kugelberg--Welander type, congenital cataract. The most frequent X-linked disorders were: muscular Duchenne type dystrophy and hemophilia A. Analysis of mutant gene distribution over the territory by the study of birthplaces of probands and their parents was carried out.
authors.forename: E K
authors.initials: EK
authors.lastname: Ginter
authors.forename: A A
authors.initials: AA
authors.lastname: Revazov
authors.forename: M I
authors.initials: MI
authors.lastname: Talanov
authors.forename: O L
authors.initials: OL
authors.lastname: Nechvolodova
authors.forename: O V
authors.initials: OV
authors.lastname: Khlebnikova
mesh_terms: D002869:Chromosome Aberrations / Q000453:epidemiology / Q000235:genetics; D025063:Chromosome Disorders; D005787:Gene Frequency; D005799:Genes, Dominant; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000453:epidemiology*; D005828:Genetics, Population; D006801:Humans; D012426:Russia; D012729:Sex Chromosome Aberrations / Q000453:epidemiology / Q000235:genetics; D014960:X Chromosome
vernacular_title: Mediko-geneticheskoe izuchenie naseleniia Kostromskoĭ oblasti. Soobshchenie II. Raznoobrazie nasledstvennoĭ patologii v piati raĭonakh oblasti.