Advertisement

Human Genetics

, Volume 102, Issue 1, pp 27–43 | Cite as

Polymorphism of the HLA class II loci in Siberian populations

  • Blazenka Grahovac
  • R. I. Sukernik
  • C. O’hUigin
  • Zofia Zaleska-Rutczynska
  • Nadezhda Blagitko
  • Olga Raldugina
  • Tanja Kosutic
  • Yoko Satta
  • Felipe Figueroa
  • Naoyuki Takahata
  • Jan Klein
Original investigation

Abstract

The populations that colonized Siberia diverged from one another in the Paleolithic and evolved in isolation until today. These populations are therefore a rich source of information about the conditions under which the initial divergence of modern humans occurred. In the present study we used the HLA system, first, to investigate the evolution of the human major histocompatibility complex (MHC) itself, and second, to reveal the relationships among Siberian populations. We determined allelic frequencies at five HLA class II loci (DRB1, DQA1, DQB1, DPA1, and DPB1) in seven Siberian populations (Ket, Evenk, Koryak, Chukchi, Nivkh, Udege, and Siberian Eskimo) by the combination of single-stranded conformational polymorphism and DNA sequencing analysis. We then used the gene frequency data to deduce the HLA class II haplotypes and their frequencies. Despite high polymorphism at four of the five loci, no new alleles could be detected. This finding is consistent with a conserved evolution of human class II MHC genes. We found a high number of HLA class II haplotypes in Siberian populations. More haplotypes have been found in Siberia than in any other population. Some of the haplotypes are shared with non-Siberian populations, but most of them are new, and some represent “forbidden” combinations of DQA1 and DQB1 alleles. We suggest that a set of “public” haplotypes was brought to Siberia with the colonizers but that most of the new haplotypes were generated in Siberia by recombination and are part of a haplotype pool that is turning over rapidly. The allelic frequencies at the DRB1 locus divide the Siberian populations into eastern and central Siberian branches; only the former shows a clear genealogical relationship to Amerinds.

Keywords

Allelic Frequency Major Histocompatibility Complex Initial Divergence Modern Human High Polymorphism 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Copyright information

© Springer-Verlag Berlin Heidelberg 1998

Authors and Affiliations

  • Blazenka Grahovac
    • 1
  • R. I. Sukernik
    • 2
  • C. O’hUigin
    • 3
  • Zofia Zaleska-Rutczynska
    • 3
  • Nadezhda Blagitko
    • 4
  • Olga Raldugina
    • 2
  • Tanja Kosutic
    • 5
  • Yoko Satta
    • 6
  • Felipe Figueroa
    • 3
  • Naoyuki Takahata
    • 7
  • Jan Klein
    • 3
  1. 1.Croatian Institute of Transfusion Medicine, 10000-Zagreb, Croatia
  2. 2.Institute of Cytology and Genetics, Section of Human Molecular Genetics, Russian Academy of Sciences, Siberian Branch, Novosibirsk, 630090, GUSRU
  3. 3.Max-Planck-Institut für Biologie, Abteilung Immungenetik, Corrensstrasse 42, D-72076, Tübingen, Germany Tel.: +49 7071 601290; Fax: +49 7071 600437 e-mail: colm@mpib.tuebingen.mpg.deDE
  4. 4.Institute for Clinical Immunology, Medizinische Klinik 3, Universität Erlangen Nürnberg, 91054 Erlangen, GermanyDE
  5. 5.Institute of Immunology, 10000-Zagreb, Croatia
  6. 6.Coordination Center for Research and Education, The Graduate University for Advanced Studies, Hayama, Kanagawa 240-01, JapanJP
  7. 7.Graduate University for Advanced Studies, Hayama, Kanagawa 240-01, JapanJP

Personalised recommendations