title: [Medico-genetical study of the Uzbekistan population. IX. Variability of hereditary pathology, territorial distribution of hereditary diseases and hereditary disease load in the population of the Urgut district of the Samarkand region].
abstract: Medical-genetic study was carried out in the population of Samarkand province (the population size about 150 000). Hereditary pathology was ascertained among families with two or more affected members with chronic diseases. 110 families with 210 patients were registered. The most frequent were autosomal-recessive disorders (42 nozological forms). 15 nozological forms are probably "new" conditions in this province, because they were absent in our previous medical-genetic study of this province. A tendency to local accumulation of families with the same disorder in small populations was observed. The load of autosomal-recessive disorders comprised 2.2 X 10(-3) affected, that of autosomal-dominant disorders being 0.51 X 10(-3) and of X-linked disorders being 0.25 X 10(-3) males. The importance of assortative maitings in manifestation of rare autosomal-recessive genes in Uzbek population is discussed.
mesh_terms: D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000453:epidemiology*; D008040:Genetic Linkage; D005828:Genetics, Population; D006801:Humans; D008297:Male; D014610:Uzbekistan; D014960:X Chromosome
vernacular_title: Mediko-geneticheskoe izuchenie naseleniia Uzbekistana. Soobshchenie IX. Raznoobrazie nasledstvennoĭ patologii, territorial'noe raspredelenie nasledstvennykh bolezneĭ i otiagoshchennost' nasledstvennoĭ patologieĭ naseleniia Urgutskogo raĭona Samarkandskoĭ oblasti.