title: [Medical genetic study of the population of Turkmenia. III. Hereditary pathology in Turkmen Nokhurlis].
abstract: Medical-genetic investigations were carried out in isolated population of Nokhurlis inhabiting some villages of Ashkhabad and Krasnovodsk provinces. A high coefficient of inbreeding, high endogamy, and low coefficients of migration were found for this population. Two hereditary disorders are relatively frequent among the Nokhurlis and lacking in neighboring populations. The frequency of the autosomal dominant gene for congenital cataract is 0.26% and that of the autosomal recessive gene for a peculiar form of obesity is 2.47%. In both cases, the main factor affecting gene accumulation appears to be the result of genetical drift effect. The total load of hereditary diseases of higher in Nokhurlis than in other Turkmen populations. The connection between the population structure of Nokhurlis and the accumulation of hereditary disorders is discussed.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002386:Cataract / Q000151:congenital / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005006:Ethnicity; D005260:Female; D005787:Gene Frequency; D005799:Genes, Dominant; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D005828:Genetics, Population; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009765:Obesity / Q000151:congenital / Q000235:genetics; D010375:Pedigree; D012424:Rural Population; D014423:Turkmenistan
vernacular_title: Mediko-geneticheskoe izuchenie naseleniia Turkmenii. Soobshchenie III. Nasledstvannaia patologiia u turkmen-nokhurli.