[Polymorphism of the HFE gene associated with hereditary hemochromatosis in populations of Russia]. / Polimorfizm gena HFE, assotsiirovannogo s nasledstvennym gemokhromatozom, v populiatsiiakh Rossii.

Expression of hereditary hemochromatosis as well as predisposition to iron overload syndrome and sporadic porphyria cutanea tarda are currently believed to be associated with the inheritance of certain allelic variants of the HFE gene. Allele frequencies of the C282Y (845A) and H63D (187G) mutations in the HFE gene in human populations of different races are remarkably different, and the prevalence of the S65C (193T) mutation is still poorly studied. In the present study we estimated allele frequencies of HFE mutations in Russians and in a number of Siberian ethnic indigenous populations. In Russians, allele frequencies of the C282Y, H63D and S65C mutations were 3.7, 13.3 and 1.7%, respectively. These values were similar to those observed in populations of Europe. The C282Y mutation was not detected in the population samples of Siberian ethnic groups, including Mansis, Khantys (Finno-Ugric group), Altaians, and Nivkhs (Mongoloids), suggesting that the frequency of this allele in the populations examined was lower than 1%. The frequency of the C282Y allele in the Tuvinian and Chukchi samples (Mongoloids) constituted 0.45 and 0.8%, respectively. Furthermore, pedigree analysis of both Chukchi carriers discovered showed that some of their ancestors were from other ethnic groups. Low frequencies of this allelic variant is typical of many Eastern Asian populations, which are also characterized by rather low frequencies of the H63D variant. In contrast, in some ethnic groups of Western Siberia allelic frequency of the H63D mutation is rather high, constituting 8.7% in Altaians, 15.5% in Mansis, and 11.3% in Khantys. The frequency of this allele in Tuvinians, Nivkhs, and Chukchis constituted 5, 4.7, and 0.8%, respectively. These findings make it possible to estimate the proportion of individuals predisposed to iron overload syndrome in different Russian ethnic groups. The HFE allele frequency distribution patterns observed in the populations examined pointed to pre-Celtic appearance of the CY82 allele. It also provides elucidation of the evolutionary genetic relationships between Siberian ethnic groups and the contemporary populations of Eastern and Western Europe.

Distribution of CCR5-delta 32 gene deletion across the Russian part of Eurasia.

32-bp inactivating deletion in the beta-chemokine receptor 5 (CCR5) gene, common in Nothern European populations, is associated with reduced HIV-1 transmission risk and delayed disease progression. We have studied the deletion distribution in many populations in Eurasia by polymerase chain reaction analysis of 531 DNA samples representing West and East Siberian, Central Asian, and Far Eastern parts of Russia. An unusually high frequency (11.1%) of the deleted variant in natives of West Siberia, of Finno-Ugrian descent, was observed. Furthermore, the deletion was infrequent in indigenous populations of Central Asia, East Siberia, the Russian Far East, and Canada. We conclude that the delta(ccr5) distribution is limited primarily to Europeans and related western Siberian Finno-Ugrian populations, with a sharp negative gradient toward the east along the territory of Russian Asia.

[A concept of promoting health in the population of the circumpolar regions]. / Kontseptsiia sokhraneniia cheloveka i ego zdorovía v pripoliarnykh regionakh.

The preservation of human health in polar and circumpolar regions depends mainly on the strategy for future development of these regions. The consequences of human intervention into northern ecology are irreversible, as in the case of greenhouse effect, industrial and atomic pollutions of polar nature, tundra devastation, destruction of northern flora and fauna, etc. The ongoing creation of large-scale industrial population centers in the North due to newcomers is to be stopped. Polar regions are to be used for biospheric reservation and tourist sanitary zones, to preserve specific flora and fauna, to provide the rhythms and customs necessary to survive in extreme climatic and geophysical conditions of high latitudes. The programme for securing man's survival in circumpolar regions should comprise several stages of practical measures to provide necessary resources and to combine international efforts. The preservation of human health should be based on the understanding of the relationship between the health status and biospheric processes and the assessment of the role of human intervention into polar ecology. A programme facilitating the preservation of human health and survival in the North and in the Antarctic should be launched.

[Role of photoperiodicity and circadian rhythm of glucocorticoids in synchronizing the fluctuations in free-radical oxidation of lipids in rats]. / Rol' fotoperiodiki i sutochnogo ritma gliukokortikoidov v sinkhronizatsii kolebanii svobodnoradikal'nogo okisleniia lipidov u krys.

A biphasic circadian rhythm in the content of liver lipid peroxidation products has been demonstrated in male Wistar rats housed under the conditions of 12L: 12D, with 3 hours of morning and evening twilight. Maxima of the concentration of the products were observed in the morning and early at night. The rhythm of lipid anti-oxidative activity was found in an anti-phase. Inversion of both the L: D cycle and glucocorticoid circadian rhythms (cortisol injections) led after 14-16 days to the same shifts in the rhythm of anti-oxidative activity. The data indicate that glucocorticoids modulate the diurnal rhythms of lipid anti-oxidative activity and may be responsible for the shifts in the rhythms of free radical oxidation, induced by inversion of the L: D cycle.