Analysis of allele and haplotype diversity across 25 genomic regions in three Eastern European populations. 2009

Andrey Khrunin, and Evelin Mihailov, and Tiit Nikopensius, and Kaarel Krjutskov, and Svetlana Limborska, and Andres Metspalu
Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, Russia. khrunin@img.ras.ru

OBJECTIVE Individual population history is the main reason for the variability of linkage disequilibrium (LD) patterns and haplotype frequencies among populations. Such diversity may influence the transferability of tag SNPs from one population to another. Our goal was to compare patterns of pairwise LD and allele and haplotype frequencies in Estonian and Russian populations, to estimate the genetic variation between populations and assess the potential transferability of tag SNPs. METHODS 452 SNPs from 25 unlinked genomic regions on 12 chromosomes were genotyped in 140 Estonians and 207 Russians from Northern and Western regions of the European area of Russia. RESULTS The allele frequency distributions were highly consistent between populations (R > 0.90 for all pairwise comparisons). The overall frequency variation among populations was low (F(ST) = 0.0054). The number of SNPs with high-range F(ST) values (0.02-0.09) was most prominent for the MC5R genomic region. Haplotype heterogeneity among populations was low (F(ST) values ranged within 0.00-0.01, with the exception of haploblocks in the ADIPOR2 and MC5R regions). The interpopulation proximity was also evaluated using haplotype diversity. CONCLUSIONS Our data showed a high concordance between the populations studied, which may be considered as the result of their historical formation on a cognate genetic basis.

UI MeSH Term Description Entries
D005061 Europe, Eastern The region of Europe generally from the area of the Baltic Sea to the Ural Mountains of Russia. Eastern Europe
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D005828 Genetics, Population The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES. Population Genetics
D006239 Haplotypes The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. Haplotype
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014644 Genetic Variation Genotypic differences observed among individuals in a population. Genetic Diversity,Variation, Genetic,Diversity, Genetic,Diversities, Genetic,Genetic Diversities,Genetic Variations,Variations, Genetic
D015810 Linkage Disequilibrium Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone. Disequilibrium, Linkage,Disequilibriums, Linkage,Linkage Disequilibriums
D020641 Polymorphism, Single Nucleotide A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population. SNPs,Single Nucleotide Polymorphism,Nucleotide Polymorphism, Single,Nucleotide Polymorphisms, Single,Polymorphisms, Single Nucleotide,Single Nucleotide Polymorphisms

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