[Medical genetics study of the population of Kostroma Province. II. The diversity of hereditary pathology in 5 districts of the province].
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.
Ginter
E K
EK
Revazov
A A
AA
Talanov
M I
MI
Nechvolodova
O L
OL
Khlebnikova
O V
OV
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
Mediko-geneticheskoe izuchenie naseleniia Kostromskoĭ oblasti. Soobshchenie II. Raznoobrazie nasledstvennoĭ patologii v piati raĭonakh oblasti.