Polymorphism of the HLA class II loci in Siberian populations |
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Authors: | 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 |
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Institution: | Croatian Institute of Transfusion Medicine, 10000-Zagreb, Croatia, Institute of Cytology and Genetics, Section of Human Molecular Genetics, Russian Academy of Sciences, Siberian Branch, Novosibirsk, 630090, GUS, RU 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.de, DE Institute for Clinical Immunology, Medizinische Klinik 3, Universit?t Erlangen Nürnberg, 91054 Erlangen, Germany, DE Institute of Immunology, 10000-Zagreb, Croatia, Coordination Center for Research and Education, The Graduate University for Advanced Studies, Hayama, Kanagawa 240-01, Japan, JP Graduate University for Advanced Studies, Hayama, Kanagawa 240-01, Japan, JP
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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.
Received: 18 August 1997 / Accepted: 6 October 1997 |
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