Xenobiotic-metabolizing genes (e.g., Cytochromes P450, GST, NAT2, and NQO1), folate metabolism genes (e.g., MTHFR and MTRR), and major histocompatibility complex genes (e.g., HLA-DQA1) play multiple roles in the organism functioning. In addition, AB0 is the most clinically significant high-polymorphic gene in transfusion and transplantation medicine. Epidemiological data show that allele frequencies of these genes exhibit ethnic and geographic diversity. Besides, little is known about frequency distribution of the major polymorphic variants in native Russians. We developed biological microchips that allow us to analyze a spectrum of allelic variants in 12 different genes: CYP1A1, CYP2D6, CYP2C9, CYP2C19, GSTT1, GSTM1, MTHFR, MTRR, NQO1, NAT2, HLA-DQA1, and AB0. Using this composite methodological platform we have studied 352 DNA samples from healthy native Russian volunteers. The allelic frequencies of gene polymorphisms obtained are close to allelic frequencies observed in some European populations, as published earlier. These data were used in comparative studies to determine predisposition to tuberculosis, lymphoma, and leukemia in adults and to childhood acute leukemia. The HLA-DQA1 and AB0 allele frequencies were used to estimate forensic population parameters for these loci.

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Using marriage records, census data, and other statistical sources, some demographic parameters of Moscow population in 1955 and 1980 have been studied, such as age at marriage, birthplace, nationality and profession of permanent residents. Migration has been shown to be the main factor of Moscow population dynamics. Genetically significant, quantitative and geographic parameters of this process have been obtained (migration rates, migration and marital distances, proportion of interethnic marriages). During the past two centuries the mean distance travelled by migrants, arriving in Moscow, increased by several times, the genetic contribution from eastern and southern parts of the country being especially marked. In the period of maximum migration rates the percentage share of marriages between Moscow-born people was only 10%. The percentage share of interethnic marriages was 14.75% in 1955 and 16.53% in 1980. The degree of isolation by distance, predicted by Malécot's model, appeared to be quite low. Positive assortative mating for nationality, birthplace, age and profession was characterized as a factor, counteracting outbreeding. While the deleterious effects of isolation and inbreeding are well known, the genetic consequences of alternative state are still obscure.

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Spatial and temporal variation of selection intensities has been analyzed using published data on Crow's indices in 278 human populations, representing various anthropological types, religions, cultures and a wide spectrum of environmental conditions. Statistical analysis has shown that populations with different types of economy have different adaptive strategies. In tribal populations both components of selection-differential fertility and differential mortality-have equal contributions, vary according to ecological factors and show no decline with time. Urban populations of the industrially developed countries show dramatic selection relaxation; the second component becomes negligible due to a sharp decrease in childhood mortality; fertility and its variance are reducing due to cultural factors (family planning).

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AbstractWe present results of Short tandem repeat polymorphisms (STRPs) analysis and epidemiology study of indigenous ethnic highlanders of Daghestan and of the migrants from highlands to the lowland area in 1944, in comparison with native lowlanders. Results obtained show that demographically ancient highland ethnics have achieved a relatively stable equilibrium in their native environment and are characterized by optimal level of the main viability parameters (fertility, mortality, lifespan and morbidity). Migrants from highlands to the lowlands experienced dramatically increased morbidity and mortality in 1944–1947: up to 65–70% of total migrants had suffered malaria, typhus and other new infections and about 35–37% of total migrants had died. Genetic-epidemiological study support that non-survived migrants were characterized by a higher inbreeding rate, lower heterozygosity and higher physiological sensitivity to the environmental stress. This inter-connected complex had advantage for adaptation of the highlanders to the native environment but diminished their adaptability in the new and/or changing environment. A detailed study using STRP we performed in 1995–1999 in one highland isolate of ethnic Avars of whom about 50% were moved to the lowland area. We found significant differences in genetic and demographical structures between these highland and migrant parts of the isolate: the genetic bottleneck among migrants had a great qualitative and quantitative impact on their gene pool, i.e., lost of rare native population alleles, as well as of about 1/3 of total migrants with certain genotypes. Survived migrants demonstrate shorter lifespan and higher morbidity rate that support their still ongoing genetic adaptation to the lowland environment.

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