title: [Genetic ecological monitoring in human populations: heterozygosity, mtDNA haplotype variation, and genetic load].
abstract: Yu. P. Altukhov suggested that heterozygosity is an indicator of the state of the gene pool. The idea and a linked concept of genetic ecological monitoring were applied to a new dataset on mtDNA variation in East European ethnic groups. Haplotype diversity (an analog of the average heterozygosity) was shown to gradually decrease northwards. Since a similar trend is known for population density, interlinked changes were assumed for a set of parameters, which were ordered to form a causative chain: latitude increases, land productivity decreases, population density decreases, effective population size decreases, isolation of subpopulations increases, genetic drift increases, and mtDNA haplotype diversity decreases. An increase in genetic drift increases the random inbreeding rate and, consequently, the genetic load. This was confirmed by a significant correlation observed between the incidence of autosomal recessive hereditary diseases and mtDNA haplotype diversity. Based on the findings, mtDNA was assumed to provide an informative genetic system for genetic ecological monitoring; e.g., analyzing the ecology-driven changes in the gene pool.
authors.forename: O P
authors.initials: OP
authors.lastname: Balanovskiĭ
authors.forename: S M
authors.initials: SM
authors.lastname: Koshel'
authors.forename: V V
authors.initials: VV
authors.lastname: Zaporozhchenko
authors.forename: A S
authors.initials: AS
authors.lastname: Pshenichnov
authors.forename: S A
authors.initials: SA
authors.lastname: Frolova
authors.forename: M A
authors.initials: MA
authors.lastname: Kuznetsova
authors.forename: E E
authors.initials: EE
authors.lastname: Baranova
authors.forename: I E
authors.initials: IE
authors.lastname: Teuchezh
authors.forename: A A
authors.initials: AA
authors.lastname: Kuznetsova
authors.forename: M V
authors.initials: MV
authors.lastname: Romashkina
authors.forename: O M
authors.initials: OM
authors.lastname: Utevskaia
authors.forename: M I
authors.initials: MI
authors.lastname: Churnosov
authors.forename: R
authors.initials: R
authors.lastname: Villems
authors.forename: E V
authors.initials: EV
authors.lastname: Balanovskaia
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D004463:Ecology; D004777:Environment; D004784:Environmental Monitoring; D005006:Ethnicity / Q000235:genetics; D040961:Genetic Drift; D040741:Genetic Load; D014644:Genetic Variation; D006239:Haplotypes / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D011153:Population / Q000235:genetics*; D012426:Russia
chemical_list: D004272:DNA, Mitochondrial