Abstract for presentation at 11th International Congress of Human Genetics

Genetic variation of the populations of the Baltic Sea

  • Tuuli Lappalainen, Finnish Genome Center, University of Helsinki, Finland
  • Satu Koivumäki, Department of Biology, Laboratory of Genetics, University of Turku, Finland
  • Virpi Laitinen, Department of Medical Genetics, University of Turku, Finland
  • Dr Pertti Sistonen, Finnish Red Cross Blood Transfusion Center, Helsinki, Finland
  • Dr Peter Andersen, Department of Neurology, Umeå University Hospital, Sweden
  • Dr Marja-Liisa Savontaus, Department of Medical Genetics, University of Turku, Finland
  • Dr Kirsi Huoponen, Department of Medical Genetics, University of Turku, Finland
  • Dr Päivi Lahermo, Finnish Genome Center, University of Helsinki, Finland

    • Sharp genetic borders within a geographically restricted region are known to exist among the populations around the northern Baltic Sea on the northern edge of Europe. We wanted to study the population history of this area further from paternal and maternal perspectives, as the recent development in the phylogeny of both Y chromosome and mitochondrial DNA (mtDNA) now enables detection of population processes in finer detail. In total, over 1200 DNA samples from Finland, Karelia, Estonia, Latvia, Lithuania and Sweden are genotyped for 18 Y-chromosomal biallelic polymorphisms and 8 microsatellite loci, and for 18 polymorphisms from the coding area of mtDNA in addition to sequencing of the hypervariable region 1.
    Y chromosomal haplogroups from the biallelic data indicate various phases of gene flow but also existence of genetic barriers within the Baltic region. Haplogroup N3, being abundant on the eastern side of the Baltic, differentiates between eastern and western sides of the Baltic Sea, similarly as R1b with a reverse frequency pattern. The high frequency of up to 40% of the typically Scandinavian haplogroup Ia1, however, separates not only Sweden but also Western Finland from the other populations. The frequency of haplogroup R1a1, most characteristic to Slavic peoples, varied substantially across the populations. In addition to biallelic markers, Y-chromosomal microsatellite loci will be analyzed for a more detailed approach to the history of the paternal lineages in the region. We are also genotyping mtDNA markers with a special interest for subhaplogroups of H and U to estimate maternal gene flow. In conclusion, our Y-chromosomal data suggests various waves of gene flow from different sources, each reaching partly different areas of the Baltic region, which can be thus seen as a meeting point of a not only culturally but also genetically diverse set of populations.

    Conference Organiser - ICMS Pty Ltd