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p53 polymorphisms in Russia and Belarus: correlation of the 2-1-1 haplotype frequency with longitude

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Abstract

Four different polymorphisms in the human p53 gene (a 16-bp duplication in intron 3, and three RFLPs: for Bsh1236I at codon 72, for MspI in intron 6 and for BamHI in the 3′ flanking region) and extended haplotypes were studied in nine geographically diverse populations from Russia and Belarus. The Yakuts differed from all other populations, as they had a significantly higher frequency of the BamHI A1 allele. Most populations did not differ significantly from each other in the frequency of the Bsh1236I polymorphism. The 16-bp duplication A1 allele and MspI A2 allele frequencies were significantly higher in the Yakut and Khant populations. Linkage disequilibrium values (D′) between BamHI and other polymorphic sites were not significant in many cases; for this reason we have used the 16 bp–Bsh1236I–MspI haplotype frequencies only. Of eight possible haplotypes, five were observed in the populations investigated. Haplotype 1-2-2 was the most frequent in all populations. The next most common haplotype, 1-1-2, was present at very similar frequencies among the Byelorussians and Russians from Smolensk, but was more frequent in other populations. The frequency of haplotype 2-1-1 showed a nearly continuous decrease from West to East (from 17.857% among the Byelorussians to 0.685% in the Yakuts from the Verkhoyansk) and correlated with longitude (Spearman’s r=−0.8667, P=0.0025), which may be due to natural selection and adaptation. The relationships among populations were evaluated by means of Nei’s DA distances for the 16 bp–Bsh1236I–MspI haplotype frequencies. Based on the multidimensional scaling analysis a correlation between p53 haplotype frequencies and ethnicity is supposed.

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Acknowledgements

This study was supported by grants from the Molecular and Cell Biology and Basic Sciences in Medicine Programs of the Russian Academy of Sciences; the Federal Support of Leading Scientific Schools of the Russian Ministry of Science and Technology; and the Russian Basic Research Foundation

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Authors and Affiliations

  1. Institute of Molecular Genetics of Russian Academy of Sciences, Kurchatov Square 2, Moscow, 123182, Russia

    A. V. Khrunin, L. A. Tarskaia, O. I. Lylova & S. A. Limborska

  2. Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, 115478, Russia

    V. A. Spitsyn

  3. North State Medical University, Archangelsk, 163061, Russia

    N. A. Bebyakova

  4. Institute of Arts, Ethnography and Folklore, National Academy of Sciences of Belarus, Minsk, 220072, Belarus

    A. I. Mikulich

Authors
  1. A. V. Khrunin
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  2. L. A. Tarskaia
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  3. V. A. Spitsyn
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  4. O. I. Lylova
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  5. N. A. Bebyakova
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  6. A. I. Mikulich
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  7. S. A. Limborska
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Correspondence to A. V. Khrunin.

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Communicated by G. Georgiev

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Khrunin, A.V., Tarskaia, L.A., Spitsyn, V.A. et al. p53 polymorphisms in Russia and Belarus: correlation of the 2-1-1 haplotype frequency with longitude. Mol Genet Genomics 272, 666–672 (2005). https://doi.org/10.1007/s00438-004-1091-8

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  • DOI: https://doi.org/10.1007/s00438-004-1091-8

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