Institute Cytology and Genetics

Laboratory of Human Evolutionary Genetics

Head L.P.Osipova, Ph.D.

Representatives of the aboriginal population of Yamalo-Nenetski autonomous district, tundra Nentsis, and Selkups

Studies on human population genetics at the Institute of Cytology and Genetics have been conducted since 1973. The population and genetic structure of isolated populations of north Siberia (Nganasans, Chukchees, Eskimos, Yakuts, Evens, Yukaghirs, Forest and Tundra Nentsis, as well as Selkups, Kets, south Altais). Investigation now includes:

  • genetic-demographic patterns, i.e. the evaluation of polymorphism for blood group antigens (ABO, MNSs, Rhesus, Duffy, Kell (Kpa,Kpb), Diego, Lutheran), serum proteins (Itp, Fb), isozymes (G-PGD, PGM, AK, AcP) and immunoglobulin markers (the Gm-system).

The major results were:

  • primary genetic "passportization", gene-geographic mapping of the studied nationalities, using many genetic markers were performed. Migration and random genetic drift were shown to contribute predominantly to the genetic structure of the population . Correct estimation of selection effect requires further study;

  • the demographic situation is endangering because the Yukaghirs and Asian Eskimos are subjected to intensive assimilation. This trend is observed to a lesser extent in the other studied groups, especially in areas of developing industry;

  • the origin of particular nationalities was made more precise. Thus, support of the hypothesis that there was a three-wave migration from Siberia to America resulting in colonization of the New World was provided;

  • individuals with a compensated variant of primary hereditary immunodeficiency were identified in the population of forest Nentsis. Although they were carriers of a true deletion of the C gamma-1 immunoglobulin gene IGHG1, no deleterious effects were identified.

Molecular-genetic studies are in progress. They concern the mitochondrial genome, the Y chromosome, the nuclear genes, the gene for the heavy chains of the constant region of immunoglobulins. The set of populations under study is increasing. A combined estimate has been obtained for the man-made effects on the human gene pool and health. Meaningful basic and applied results were obtained.