Khrunin Andrey, Mihailov Evelin, Nikopensius Tiit, Krjutskov Kaarel, Limborska Svetlana, Metspalu Andres
Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, Russia.
Hum Hered. 2009;68(1):35-44. doi: 10.1159/000210447. Epub 2009 Apr 1.
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.
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.
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.
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.
个体群体历史是群体间连锁不平衡（LD）模式和单倍型频率变异性的主要原因。这种多样性可能会影响标签单核苷酸多态性（tag SNPs）从一个群体转移到另一个群体的可转移性。我们的目标是比较爱沙尼亚人和俄罗斯人群体中两两LD模式以及等位基因和单倍型频率，估计群体间的遗传变异，并评估tag SNPs的潜在可转移性。
对来自俄罗斯欧洲地区北部和西部地区的140名爱沙尼亚人和207名俄罗斯人的12条染色体上25个非连锁基因组区域的452个SNPs进行基因分型。
群体间等位基因频率分布高度一致（所有两两比较的R>0.90）。群体间的总体频率变异较低（F(ST)=0.0054）。MC5R基因组区域中具有高范围F(ST)值（0.02 - 0.09）的SNPs数量最为突出。群体间单倍型异质性较低（F(ST)值在0.00 - 0.01范围内，ADIPOR2和MC5R区域的单倍型块除外）。还使用单倍型多样性评估了群体间的亲缘关系。
我们的数据显示所研究的群体之间具有高度一致性，这可能被认为是它们在同源遗传基础上历史形成的结果。
