title: [Genetic epidemiological study of populations in three regions of Chuvashia Republic].
abstract: Comprehensive population genetic and medical genetic studies were performed in three raions (districts) of Chuvashia. The population of these districts is more than 90% Chuvash. About 70% of the families that completed reproduction had two or three children. The proportion of families with four or more children was 18%. The duration of generation was 27.6 years. The differential fertility and differential mortality indices in the Chuvash population were estimated at 0.33 and 0.076, respectively. The total index of differential selection was 0.403, which is typical of modern urbanized populations. Mean values of local inbreeding calculated from Malecot's model of isolation by distance were 0.00124 and 0.00377 for the urban and rural populations, respectively, of the districts studied. The prevalence rates of autosomal dominant (AD), autosomal recessive (AR), and X-linked diseases were found to be 0.47, 0.52, and 0.35 per 1000, respectively, in the urban population and 1.62, 1.14, and 0.31 per 1000, respectively, in the rural population. Significant correlation between the local inbreeding and prevalence rates of AD and AR diseases was found. A total of 43 AD and 43 AR diseases were identified. Some of them were not found in previous studies on other populations.
authors.affiliation: Research Center for Medical Genetics, Russian Academy of Medical Sciences, Moscow, 115478 Russia.
authors.forename: E K
authors.initials: EK
authors.lastname: Ginter
authors.forename: R A
authors.initials: RA
authors.lastname: Zinchenko
authors.forename: G I
authors.initials: GI
authors.lastname: El'chinova
authors.forename: V A
authors.initials: VA
authors.lastname: Galkina
authors.forename: G E
authors.initials: GE
authors.lastname: Rudenskaia
authors.forename: A G
authors.initials: AG
authors.lastname: Kirillov
authors.forename: O V
authors.initials: OV
authors.lastname: Khlebnikova
authors.forename: T Iu
authors.initials: TIu
authors.lastname: Larina
authors.forename: A V
authors.initials: AV
authors.lastname: Zhigazheva
authors.forename: L A
authors.initials: LA
authors.lastname: Makurdumian
authors.forename: S P
authors.initials: SP
authors.lastname: Zinchenko
authors.forename: S D
authors.initials: SD
authors.lastname: Nurbaev
authors.forename: S G
authors.initials: SG
authors.lastname: Gavrilina
authors.forename: S I
authors.initials: SI
authors.lastname: Kozlova
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005006:Ethnicity; D005260:Female; D030342:Genetic Diseases, Inborn / Q000453:epidemiology / Q000235:genetics; D005828:Genetics, Population; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D011247:Pregnancy; D012426:Russia / Q000453:epidemiology
vernacular_title: Genetiko-épidemiologicheskoe izuchenie naseleniia trekh raĭonov Respubliki Chuvashiia.