title: [Influence of population's genetic structure on the load size of monogenic hereditary diseases in Russia].
abstract: The paper presents the results of genetic and epidemiological study of populations in 5 Russian regions: the Kirov, Kostroma, and Bryansk Provinces, Krasnodar Territory, and the Republic of Mari El. The total size of the study population was over 1.5 million. Random inbreeding (Fst) in all Russian rural populations was significant and varied from 0.34 x 10(-3) to 7.6 x 10(-3). The prevalence rates for autosomal dominant (AD) disorders ranged from 0.22 to 3.93 per 1000. The load of autosomal recessive (AR) disorders varied from 0.17 to 2.01. The prevalence rates for AD and AR disorders was twice lower in the urban populations than those in the rural ones. The prevalence of X-linked recessive disorders was 0.33 per 1000 males. An analysis was made to examine the correlation between inherited diseases and Fst. The Pierson correlation coefficient was 0.81 and 0.87 for AD and AR disorders, respectively. The regression suggested that genetic differentiation of the populations with genes for hereditary disorders is partially related to gene drift. This suggestion was proved by genetic geographical mapping analysis. The similarity in the patterns of genetic distance distribution for all 3 genetic systems was revealed by the correlation coefficients between the maps for neutral genetic markers and the genes of AD and AR disorders which were equal to 0.67 and 0.65. There was the highest correlation coefficient between the maps of genetic distances for the genes of AD and AR disorders (Rs = 0.88).
authors.forename: R A
authors.initials: RA
authors.lastname: Zinchenko
authors.forename: G I
authors.initials: GI
authors.lastname: El'chinova
authors.forename: E V
authors.initials: EV
authors.lastname: Balanovskaia
authors.forename: S D
authors.initials: SD
authors.lastname: Nurbaev
authors.forename: E K
authors.initials: EK
authors.lastname: Ginter
mesh_terms: D003241:Consanguinity; D005787:Gene Frequency; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D011156:Population Density; D015995:Prevalence; D012426:Russia / Q000453:epidemiology