International Union for Circumpolar Health Ministry of Public Health and Social Development of RF Russian Academy of Medical Sciences Siberian Branch of Russian Academy of Medical Sciences Siberian Branch of Russian Academy of Sciences Medical Polar Fund “Science” The Northern Forum

Abstracts

Genetics, demography, anthropology

Two polymorphous sites were found in the human c-fms gene encoding receptor for macrophage colony stimulating factor: one (dinukleotide TC→CA) is in positions 34293 and 34294 in the 3’- untranslated gene region (3’UTR) [Romaschenko et al, 2002], another is deletion polymorphism (del425) of the c-fms gene intron 11 [Verbeek et al., 1985]. It is known, that 3’UTR and del425 of the c-fms gene are informative for estimation of negative environmental factors, which influence on genetic variety in gene pools of human populations [Kouznetsova, 2004]. The tendency to increase rare (including deletion) allele frequencies in direction from south-west to north-east was discovered [Kouznetsova et al, 2004]. It was shown, that polymorphisms del425 and 3’UTR associated with acute bronchitis in Russian of Novosibirsk and with trichomoniasis in Altaici and Kazakh; and also 3’UTR associated with breast non-cancerous growth and lungs cancer in Russian of Novosibirsk [Kouznetsova, 2004]. Complex researches have been carried out in Purov region of Yamalo-Nenets Autonomous District since 1992 to ascertain consequences of man-caused influence on gene pool and human health [Osipova et al, 1998]. We used above-mentioned polymorphisms c-fms gene to study native human populations, inhabiting in that region. Our sample consists of 75 persons, 50 of them are tundra Nenets and 25 are metises between Nenets and “Europeans”. Allele-specific PCR of c-fms gene locuses 3’UTR and del425 has been done with DNA samples extracted phenol-chloroform method. Mutant allele frequency of locus 3’UTR is 28.5% and 32.0% in tundra Nenets and metises respectively. Tundra Nenets are similar to Altaici population, in which allele frequency is 30.8% [Kouznetsova, 2004]. Rare allele (including deletion) frequency is 29.0% in tundra Nenets and only 9.2% in metises. We compared our data with literary data and made a conclusion that tundra Nenets took intermediate place between “european” and “mongoloid” groups. For example, allele frequency of del425 is 9.4% in Germans from Altai region, whereas 41.1% in coastal Chukchi [Kouznetsova, 2004]. It may be proposed that metisation leads to considerable change in distribution of allele frequency in human populations. In future we plane to study other ethnic groups (Komi, Sel’kupy, Khanty) and to find associations with existence data of distribution of chromosome aberrations and other markers too.

Note. Abstracts are published in author's edition

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