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This study investigated the synthesis and substrate properties of Cy5-labeled dUTP derivatives with different substituents, linkers between the dye unit and pyrimidine heterocycle and fluorophore charges. Fluorescently labeled nucleoside triphosphates were studied as substrates using multiplex PCR with Taq and Vent (exo-) DNA polymerases, the typical representatives of the A and B polymerase families. The efficiency of nucleotide incorporation during PCR was assessed with a multi-parameter hybridization analysis using a diagnostic DNA microarray. The hybridization analysis indirectly estimates the incorporation efficiency of dye-labeled nucleotides in multiplex PCR. Our results demonstrated higher efficiencies of substrates with electrically neutral dyes than electropositive and electronegative Cy5 residues.

Although Siberia was inhabited by modern humans at an early stage, there is still debate over whether this area remained habitable during the extremely cold period of the Last Glacial Maximum or whether it was subsequently repopulated by peoples with a recent shared ancestry. Previous studies of the genetic history of Siberian populations were hampered by the extensive admixture that appears to have taken place among these populations, since commonly used methods assume a tree-like population history and at most single admixture events. We therefore developed a new method based on the covariance of ancestry components, which we validated with simulated data, in order to investigate this potentially complex admixture history and to distinguish the effects of shared ancestry from prehistoric migrations and contact. We furthermore adapted a previously devised method of admixture dating for use with multiple events of gene flow, and applied these methods to whole-genome genotype data from over 500 individuals belonging to 20 different Siberian ethnolinguistic groups. The results of these analyses indicate that there have indeed been multiple layers of admixture detectable in most of the Siberian populations, with considerable differences in the admixture histories of individual populations, and with the earliest events dated to not more than 4500 years ago. Furthermore, most of the populations of Siberia included here, even those settled far to the north, can be shown to have a southern origin. These results provide support for a recent population replacement in this region, with the northward expansions of different populations possibly being driven partly by the advent of pastoralism, especially reindeer domestication. These newly developed methods to analyse multiple admixture events should aid in the investigation of similarly complex population histories elsewhere.

Lately social prophylaxis of tuberculosis has taken on special significance in the Armed Forces of the Russian Federation. Thank to social measures of the modern military reform, such as reduction of conscription term, territorial principle of recruitment for the army, improvement of habitation, service and recreation conditions, improvement of quality and organization of a diet, improvement of quality of a uniform it succeeded in reducing tuberculosis morbidity in military servicemen from 2007 up to 2014 up to 65 percent. Nevertheless, the main ways of tuberculosis control in the army (military service prohibition for citizens with tuberculosis, early active case detection, prophylaxis in risk group, anti-epidemic measures in the army nidus of tuberculosis etc.) are still urgent. To increase an effectiveness of the work done it is necessary to specify procedure and period of preventive fluorography in military servicemen.

The fishing community of Bering Island, located in the Russian Commander Islands off the Kamchatka Peninsula, was originally founded by a small number of Russian soldiers and merchants, along with Aleuts forcibly relocated from the western region of the Aleutian archipelago. The purpose of this study is to characterize the genetic variation of Bering Island inhabitants for autosomal, mitochondrial, and Y-chromosome DNA and classic genetic markers and to investigate the genetic impact of the 19th-century founding and subsequent demographic events on this heterogeneous community. Our results show a loss of diversity among maternal lineages in the Bering Aleut population, with fixation of mtDNA haplogroup D, as revealed by median-joining network analysis and mismatch differences. Conversely, paternal haplotypes exhibit an increase in diversity and the presence of a substantial number of non-Native lineages. Admixture results, based on autosomal STR data, indicate that parental contributions to the mixed Aleut population of Bering are approximately 60% Aleut and 40% Russian. Classic genetic markers show affinities between the Bering Island Aleuts and the other historically founded Aleut communities of St. Paul and St. George in the Pribilof Islands, Alaska. This study demonstrates that the opposing evolutionary forces of genetic drift and gene flow acted on the maternal and paternal lineages, respectively, to shape the genetic structure of the present-day inhabitants of Bering Island.

This study investigates the genetic structure of the present-day inhabitants of Beringia in order to answer questions concerning their origins and evolution. According to recent studies, the ancestors of Native Americans paused for a time in Beringia, during which they differentiated genetically from other Asians before peopling the New World. Furthermore, the Koryaks of Kamchatka share a "ubiquitous" allele (D9S1120) with Native Americans, indicating they may have descended from the same ancestral Beringian population that gave rise to the New World founders. Our results show that a genetic barrier exists between Kamchatkans (Koryaks and Even) and Bering Island inhabitants (Aleuts, mixed Aleuts, and Russians), based on Analysis of Molecular Variance (AMOVA) and structure analysis of nine autosomal short tandem repeats (STRs). This is supported by mitochondrial DNA evidence, but not by analysis of Y chromosome markers, as recent non-native male admixture into the region appears to have partially obscured ancient population relationships. Our study indicates that while Aleuts are descended from the original New World founders, the Koryaks are unlikely to represent a Beringian remnant of the ancestral population that gave rise to Native Americans. They are instead, like the Even, more recent arrivals to Kamchatka from interior Siberia, and the "ubiquitous" allele in Koryaks may result from recent gene flow from Chukotka. Genbank accession numbers for mtDNA sequences: GQ922935-GQ922973.

Over the last 20 years, obesity and associated metabolic diseases have emerged as major global health problems. Among urbanizing populations of developing regions of the world, childhood undernutrition often coexists with adult overnutrition, a phenomenon known as the “dual nutritional burden”. A recent work (Frisancho 2003: Am J Hum Biol 15:522–532) suggests that linear growth stunting in early childhood may contribute to adult obesity by reducing the body's ability to oxidize fat. We test central aspects of this model drawing on data from 112 adult Buryat herders (53 males; 59 females) from Southern Siberia. The results are consistent with the predictions of the model, but only for women. Shorter Buryat women (height-for-age Z-scores ≤ −1) have significantly lower fasting fat oxidation levels compared to their taller counterparts. Shorter women are also significantly heavier and fatter, and have higher serum lipid levels. Among all Buryat women, reduced fat oxidation is significantly correlated with percent body fatness, serum triglyceride levels, and serum leptin levels, after controlling for relevant covariates. Additionally, Buryat women with high dietary fat intakes and low fat oxidation are significantly fatter and have higher lipid and leptin levels than those with low fat intakes and high fat oxidation. These results suggest that developmental changes in fat oxidation may play a role in the origins of obesity among populations with high rates of linear growth stunting. Further longitudinal research is necessary to elucidate the pathways through which early-life undernutrition may increase risks for adulthood obesity and cardiovascular disease. Am. J. Hum. Biol. 2009. © 2009 Wiley-Liss, Inc.

Four different polymorphisms in the human p53 gene (a 16-bp duplication in intron 3, and three RFLPs: for Bsh1236I at codon 72, for MspI in intron 6 and for BamHI in the 3' flanking region) and extended haplotypes were studied in nine geographically diverse populations from Russia and Belarus. The Yakuts differed from all other populations, as they had a significantly higher frequency of the BamHI A1 allele. Most populations did not differ significantly from each other in the frequency of the Bsh1236I polymorphism. The 16-bp duplication A1 allele and MspI A2 allele frequencies were significantly higher in the Yakut and Khant populations. Linkage disequilibrium values (D') between BamHI and other polymorphic sites were not significant in many cases; for this reason we have used the 16 bp-Bsh1236I-MspI haplotype frequencies only. Of eight possible haplotypes, five were observed in the populations investigated. Haplotype 1-2-2 was the most frequent in all populations. The next most common haplotype, 1-1-2, was present at very similar frequencies among the Byelorussians and Russians from Smolensk, but was more frequent in other populations. The frequency of haplotype 2-1-1 showed a nearly continuous decrease from West to East (from 17.857% among the Byelorussians to 0.685% in the Yakuts from the Verkhoyansk) and correlated with longitude (Spearman's r = -0.8667, P = 0.0025), which may be due to natural selection and adaptation. The relationships among populations were evaluated by means of Nei's D(A) distances for the 16 bp-Bsh1236I-MspI haplotype frequencies. Based on the multidimensional scaling analysis a correlation between p53 haplotype frequencies and ethnicity is supposed.

International audience; The Yakuts of northeastern Siberia are a Turkic-speaking population of horse- and cattle-breeders surrounded by Tungusic-speaking reindeer-herders and hunter-gatherers. Archaeological and ethnohistorical data suggest that Yakuts stem from a common ancestral population with the Buryats living near Lake Baikal. To address this hypothesis, we obtained sequences of the first hypervariable segment (HV1) of the mitochondrial DNA control region from Yakuts and Buryats and compared these with sequences from other Eurasian populations. The mtDNA results show that the Buryats have close affinities with both Central Asian Turkic groups and Mongols, while the Yakuts have close affinities with northeastern Siberian, Tungusic-speaking Evenks and south Siberian, Turkic-speaking Tuvans. This different ancestry of the Yakuts and the Tuvans (compared with other Turkic-speaking groups) most likely reflects extensive admixture that occurred between Turkic-speaking steppe groups and Evenks as the former migrated into Siberia. Moreover, the Yakuts are unique among Siberian populations in having a high number of haplotypes shared exclusively with Europeans, suggesting, contrary to the historical record, that occasionally Yakut men took Russian women as wives.

We studied the possible effects of climatic-geographic factors on the world distribution of the mutant allele for the chemokine receptor gene CCR5, which has a 32-bp deletion (CCR5Δ32) preventing cell invasion by the primary transmitting strain of HIV-1. New data on CCR5 polymorphisms in Russian, Ukrainian, and Moldavian populations are presented. All available data on CCR5Δ32 frequencies in the Old World (number of populations n = 77) were used for construction of a geographical gene map to analyze possible correlations between allele frequencies and eight climatic-geographic parameters. A strong positive correlation was found between the allele frequency and latitude (r = 0.72), a strong negative correlation with annual radiation balance (r = –0.66), and a weaker negative correlation with longitude (r = –0.34). Partial correlations were calculated excluding the influence of latitude. The negative correlation between the allele frequency and annual radiation balance decreased (r = –0.42), but remained large and significant. We propose that the existence of correlations between the cline of CCR5Δ32 frequencies and climatic-geographic parameters provides evidence for a possible effect of either natural environmental factors or large-scale population movements on the distribution of this allele.

To expand the informational capabilities of molecular genetic research, on the biological microchips, new indotricarbocyanine dyes that fluoresce in the near infrared (IR) spectral region have been synthesized. The developed IR dyes were studied using a biochip-based test system for detection of mutations in the BRCA1/BRCA2 and CHECK2 genes associated with breast cancer. The fluorescent label was introduced to the analyzed DNA during PCR using primers labeled with the synthesized IR dyes. An analyzer that allows recording and processing of images of fluorescent microarrays in the IR spectral region was designed and manufactured. It has been shown that the use of the synthesized dyes enables to conduct analysis in the IR region and improve the reliability of medical diagnostic tests due to low fluorescence intensity of sample components as well as of a biochip substrate and the reagents used for analysis.

Arctic genetics comes in from the coldDespite a well-characterized archaeological record, the genetics of the people who inhabit the Arctic have been unexplored. Raghavanet al.sequenced ancient and modern genomes of individuals from the North American Arctic (see the Perspective by Park). Analyses of these genomes indicate that the Arctic was colonized 6000 years ago by a migration separate from the one that gave rise to other Native American populations. Furthermore, the original paleo-inhabitants of the Arctic appear to have been completely replaced approximately 700 years ago.Science, this issue10.1126/science.1255832; see also p.1004

History of development and improvement of tandem mass spectrometry, possibilities of its application at the contemporary stage in various fields of medicine and biotechnology including production of novel medicinal preparations, identification of biologically active substances, pathogenic microorganisms and causative agents of especially dangerous infections is given.

Population genetic data on Gagauzes from Moldavia are reported for the first time. AB0 and Rhesus blood groups, serum protein group (HP,TF, GC) and the red cell enzyme polymorphism PGM1 were determined in 190 Gagauzes. In addition to this the ability to taste PTC was tested. The following allele frequencies were found: AB0 * 0 = 0.5241, AB0 * A = 0.3279, AB0 * B = 0.1480; RH * D = 0.6083, RH * d = 0.3917; HP * 1 = 0.3544, HP * 2 = 0.6456; TF * C1 = 0.7472, TF * C2 = 0.1770, TF * C3 = 0.0730, TF * B = 0.0028; GC * 1F = 0.1025, GC * 1S = 0.5932, GC * 2 = 0.3043; PGM * 1+ = 0.5932; PGM * 1- = 0.1000, PGM * 2+ = 0.2607, PGM * 2- = 0.1107. The frequency of the PTC * T allele was found to be 0.5298. These frequencies and genetic distance analyses show that the gene pool of the Gagauzes is similar to that of neighbouring southeastern European populations

INTRODUCTION : Mutations in the gene encoding the free radical scavenging enzyme CuZn-superoxide dismutase have been associated with amyotrophic lateral sclerosis (ALS). Ninety-eight mutations have been found worldwide in patients with ALS, all but one showing a dominant pattern of inheritance. The exception is the D90A mutation which in Finland, northern Norway and northern Sweden exists with an allele frequency of 1-2.5% and is in these regions associated with ALS inherited as a recessive trait. METHODS AND RESULTS : In this study we searched for the D90A CuZn-SOD mutation in different ethnic populations of the Russian Federation and found the D90A mutation not only in locations close to the Scandinavian peninsula but also in remote populations in Asia. CONCLUSION : The finding makes the D90A mutation the most prevalent CuZn-SOD mutation globally and has implications for interpreting the recent reports of D90A-heterozygous ALS patients in North America and Europe.

The chemokine receptor CCR5 is encoded by the CMKBR5 gene located on the p21.3 region of human chromosome 3, and constitutes the major co-receptor for the macrophage-tropic strains of HIV-1. A mutant allele of the CCR5 gene, Delta ccr5 , was shown to provide to homozygotes with a strong resistance against infection by HIV. The frequency of the Delta ccr5 allele was investigated in 18 European populations. A North to South gradient was found, with the highest allele frequencies in Finnish and Mordvinian populations (16%), and the lowest in Sardinia (4%). Highly polymorphic microsatellites (IRI3.1, D3S4579 and IRI3.2, D3S4580 ) located respectively 11 kb upstream and 68 kb downstream of the CCR5 gene deletion were used to determine the haplotype of the chromosomes carrying the Delta ccr5 variant. A strong linkage disequilibrium was found between Delta ccr5 and specific alleles of the IRI3.1 and IRI3.2 microsatellites: >95% of the Delta ccr5 chromosomes carried the IRI3.1-0 allele, while 88% carried the IRI3.2-0 allele. These alleles were found respectively in only 2 or 1.5% of the chromosomes carrying a wild-type CCR5 gene. From these data, it was inferred that most, if not all Delta ccr5 alleles originate from a single mutation event, and that this mutation event probably took place a few thousand years ago in Northeastern Europe. The high frequency of the Delta ccr5 allele in Caucasian populations cannot be explained easily by random genetic drift, suggesting that a selection advantage is or has been associated with homo- or heterozygous carriers of the Delta ccr5 allele.

The codon 31 polymorphism of the p53-inducible protein p21 was studied with respect to allele frequency variations between some major ethnic groups. The frequency of the Al (Arg) allele showed highly significant variations ranging from 4% in Caucasians (Swedes) to 50% in Chinese. Compared to Caucasians, a relatively high frequency was found in African Blacks (29%) and Indians (16%). Furthermore, Finns and Mordvinians also had higher frequencies (9-10%) than west Europeans (French and Swedes), consistent with an Asiatic Mongoloid influence known to exist in Finno-Ugrian tribes. The geographic allele frequency patterns of p53 and its effector protein p21 were quite different. The p21 A1 mutations in African, Asiatic and European populations were identical at the DNA level. The geographical distribution of the A1 allele suggests an independent origin in Africa and Asia. The very pronounced ethnic differentiation of tumour suppressor genes and the fact that tumour suppressor genes may be teratogenes suggest that these polymorphisms are maintained by natural selection, probably operating in the intrauterine period.

International audience; Evenks and Evens, Tungusic-speaking reindeer herders and hunter-gatherers, are spread over a wide area of northern Asia, whereas their linguistic relatives the Udegey, sedentary fishermen and hunter-gatherers, are settled to the south of the lower Amur River. The prehistory and relationships of these Tungusic peoples are as yet poorly investigated, especially with respect to their interactions with neighbouring populations. In this study, we analyse over 500 complete mtDNA genome sequences from nine different Evenk and even subgroups as well as their geographic neighbours from Siberia and their linguistic relatives the Udegey from the Amur-Ussuri region in order to investigate the prehistory of the Tungusic populations. These data are supplemented with analyses of Y-chromosomal haplogroups and STR haplotypes in the Evenks, Evens, and neighbouring Siberian populations. We demonstrate that whereas the North Tungusic Evenks and Evens show evidence of shared ancestry both in the maternal and in the paternal line, this signal has been attenuated by genetic drift and differential gene flow with neighbouring populations, with isolation by distance further shaping the maternal genepool of the Evens. The Udegey, in contrast, appear quite divergent from their linguistic relatives in the maternal line, with a mtDNA haplogroup composition characteristic of populations of the Amur-Ussuri region. Nevertheless, they show affinities with the Evenks, indicating that they might be the result of admixture between local Amur-Ussuri populations and Tungusic populations from the north.

The paper presents data on the sorption of influenza A(H1N1), A(H1N1)v, A(H3N2) viruses, cDNA of A(H1N1)v and B viruses on nanodiamonds and furnace charge. The sorption of viruses occurred in different solutions at 4-37 degrees C during 10-20 min. The rate of sorption varied with the concentration of a sorbent in the solution and its structure, but did not with the antigenic formula of viruses or temperature. The sorption capacity of furnace charge towards influenza A and B viruses was higher than that of nanodiamonds. Nonviral proteins (bovine serum albumin and influenza virus antibodies) were found to be bound by both sorbents. Viral desorption did not take place in physiological solution at 4 and 22 degrees C for 48 hours.

An analysis of a highly polymorphic region of the apolipoprotein B gene 3′-end DNA (Apo B 3′-VNTR), represented by 10 alleles, was carried out using the polymerase chain reaction. Data inferred from the principal component analysis indicate that the Udmurts occupy an isolated position among the populations constituting the northern branch of Caucasoid peoples.

Eight Alu insertions at the NBC27, TPA25, NBC148, NBC123, ACE, APOA1, NBC51, and PV92 locus were examined in three subethnic groups of Kalmyks (Torgouds, Derbets, and Buzava). In general, the pattern of allele frequencies in Kalmyks was consistent with that in Asian populations of the world, and was similar to the Alu insertion frequencies pattern in Turkic populations of the Volga--Ural region and Central Asia. Pairwise comparisons of three subpopulations of Kalmyks with respect to the frequency distributions of eight Alu insertions revealed the differences between the groups examined. The coefficient of gene differentiation, F(st), constituted 1.37%, pointing to the common origin of the groups of interest, as well as to the uniformity of the gene pools of subethnic groups of Kalmyks examined.

It has been hypothesized that, whereas many loci are used to generate phylogenetic relationships, the utilization of those that yield the most information could increase the accuracy of any multilocus phylogenetic reconstruction. Among these is the D1S80 hypervariable minisatellite region, which has been shown to be highly polymorphic globally, and it was of interest to compare the nearest neighbours and distant populations of Eastern Europe using the D1S80 polymorphism.The study evaluated the capacity of the D1S80 locus to discriminate between populations from different ethnic groups in Russia and the Republic of Belarus, revealing the polymorphism parameters of the populations studied.Hypervariable D1S80 minisatellite polymorphism was studied in 15 populations, belonging to six distinct ethnic groups from the Russian Federation (Russians, Komis, Maris, Udmurts, Kalmyks, and Yakuts) and the Republic of Belarus (Byelorussians). The data were analysed with other results reported for D1S80 polymorphism among Eastern Europeans, and were analysed together with those previously reported for Eastern European populations for the 3'ApoB, DMPK, DRPLA, and SCA1 hypervariable loci. Genetic diversity analysis was carried out using multidimensional scaling (MDS) of Nei's genetic distances.The Eastern Slavonic populations (Russians, Ukrainians, and Byelorussians) are closely associated, and outermost from populations of Asian origin (Kalmyks and Yakuts). The populations that inhabit the Volga-Ural region (Udmurt, Komi, Mari, and Bashkir ethnic groups) revealed intermediate characteristics.The clustering of populations demonstrated here using D1S80 alone coincides with the analysis of five hypervariable region (HVR) loci, and is consistent with linguistic, geographic, and ethnohistorical data. These results are in agreement with most studies of mtDNA, Y-chromosomal, and autosomal DNA diversity in Eastern Europe. The D1S80 locus is convenient for population analyses, and may be used as part of a set of similar markers, which should allow the easy resolution of small differences in population structures.

The mtDNA variation of 198 Aleuts, as well as North American and Asian populations drawn from the literature, were analyzed to reconstruct the Aleuts' genetic prehistory and to investigate their role in the peopling of the Circumarctic region. From median-joining network analysis, three star-like clusters were identified in the Aleuts within the following subhaplogroups: A3, A7 (an Aleut-specific subclade of A3), and D2. Mismatch analyses, neutrality test scores, and coalescent time estimates for these three components provided evidence of two expansion events, one occurring at approximately 19,900 B.P. and the other at 5,400 B.P. Based on these findings and evidence from the archaeological data, four general models for the genetic prehistory of the Aleutian Island chain are proposed: 1) biological continuity involving a kin-structured peopling of the archipelago; 2) intrusion and expansion of a non-native biface-producing population dominated by subhaplogroup D2; 3) amalgamation of Arctic Small Tool tradition peoples characterized by D2 with an older Anangula substratum; and 4) biological continuity with significant gene flow from neighboring populations of the Alaskan mainland and Kodiak Island. The Aleut mtDNAs are consistent with the Circumarctic pattern by the fixation of A3 and D2, and the exhibition of depressed diversity levels relative to Amerind and Siberian groups. The results of this study indicate a broad postglacial reexpansion of Na-Dene and Esko-Aleuts from reduced populations within northern North America, with D2 representing a later infusion of Siberian mtDNAs into the Beringian gene pool.

The rapid social and cultural changes introduced by the collapse of the Soviet Union have resulted in important differences in cardiovascular health for indigenous Siberians. This study investigated diet and lifestyle determinants of plasma lipids in the Yakut, an indigenous Siberian herding population. The study used a cross-sectional design with data on 201 subjects in three urbanized towns and three rural communities in northeastern Siberia. Data on sociodemographic characteristics, dietary intake, and material lifestyle were collected, and lipids were analyzed from venous whole blood. Diet was analyzed using patterns of dietary intake based on principal components analysis of a dietary intake (food frequency) questionnaire. We identified three diet patterns: a traditional subsistence diet, a market foods diet, and a mixed diet. The effect of lifestyle on cardiovascular risk factors was measured using an ethnographically defined lifestyle index, with two orthogonal dimensions: subsistence lifestyle and modern lifestyle. Total cholesterol (TC) and low-density lipoprotein (LDL) were significantly higher among those consuming a traditional subsistence diet of meat and dairy products. A modern lifestyle was associated with lower TC and LDL but higher adiposity and higher risk of obesity. LDL and TC were higher in rural communities and lower in urbanized towns. The significantly higher lipid levels associated with a subsistence diet and indirectly with a subsistence lifestyle indicate the emergence of a significant health problem associated with the social and cultural changes occurring in Yakutia today. These findings underscore the need for dietary modification and promotion of physical activity among those most at risk for cardiovascular disease (CVD). Moreover, these results differ from those commonly seen in “modernizing” populations, in that elements of subsistence lifestyle are associated with an elevated rather than reduced risk of CVD. Such variable responses to lifestyle change emphasize the need to better understand the distinct social and historical events that may influence health changes among populations in transition. Am. J. Hum. Biol. 17:576–592, 2005. © 2005 Wiley-Liss, Inc.

A complex anthropological survey based on population-genetic methods and a study of a wide spectrum of genetic systems (43 alleles from 17 independent loci) was undertaken among 450 Buryat women of post-reproductive age. The results obtained showed the influence of particular genetic markers and their complex on the formation of peculiarities in the reproduction structure of the Buryat population.A sharp increase in phenotype GC 2-2 frequency and the corresponding GC*2 allele of the group-specific component (GC) was established for women groups with burdened obstetric records. These groups are characterized also by a considerable decrease in the observed geterozygosity (Ho) as compared to its expected value (He). Samples including women with multiple pregnancies in the recorded obstetric anamnesis are characterized by a significant increase in the frequency of the rare alleles TF*C3 of the transferrin system and those of PI*Z belonging to the proteinase inhibitor system (a1-antitrypsin) as compared to the control group. The results obtained widened current knowledge about the influence of genetic and environmental components on reproduction processes in human populations.

Mitochondrial DNA (mtDNA) variation was studied in population of Oroks (n = 61), the indigenous inhabitants of Eastern Siberia. Most of the mtDNA types examined fell into five haplogroups (C, D, G, M10, and Y) typical of Eastern Eurasian populations. For three haplogroups (D, C, and M10), the founder effect was established. In one individual, a unique lineage belonging to haplogroup HV and typical of Caucasoids was detected.

The frequencies of three alleles, CCR5delta32, CCR2-64I, and SDF1 3'A, known to decrease the risk of AIDS onset and the rate of the disease progression in HIV-infected individuals were determined in three native population samples from Russia, Ukraine, and Belarus. The frequencies of the alleles were 0.15, 0.12, 0.21; 0.12, 0.07, 0.20; and 0.12, 0.08, 0.26 for Russians, Ukrainians, and Belarussians, respectively. The proportion of the individuals without any of three protective alleles among Russians, Ukrainians, and Belarussians constituted 49, 65, and 61%, respectively. The genotype frequencies for the three loci studied were in Hardy-Weinberg equilibrium. Based on the three-locus genotype frequencies, the hazard ratios (relative hazards, RH) of AIDS onset in HIV-infected individuals in each sample were calculated as ranging from 0.79 to 0.88. In the samples of Eastern Slavs analyzed the estimated frequencies of the AIDS-protective alleles tested, as well as the frequencies of the corresponding genotypes and the relative hazards of AIDS onset were within the range of these parameters for the other European populations. The data on the allele frequencies and the relative hazard values in Russians, Ukrainians and Belarussians can be used as the predictors of AIDS onset and progression rate in HIV-1-infected individuals from the populations studied.

The genetic demographic structure of the Gagauz population of Moldova has been described for the first time. Data of interviews and official records have been used to analyze the sex and age structure of the population and marriage relationships, as well as to estimate the effective sizes of the populations of six settlements and selection intensity (according to Crow's formula). The demographic data indicate that social transformations have substantially affected the genetic demographic parameters of the population. The gene exchange rate per generation has been determined (m = 0.0204 in 1972 and m = 0.0309 in 1997). The estimated ratio between the components of Crow's index (I(m)I(f)) in the Gagauz population is similar to those for the populations of developed countries with traditionally rural lifestyles. The study of marriage relationships of the Gagauz population has shown that Gagauzes are intensely mixing with Moldovans, Bulgarians, Russians, and Ukrainians.

Apolipoprotein B 3' (3' ApoB) minisatellite polymorphism was studied in healthy unrelated individuals from the Russian Federation and the Republic of Belarus, in 10 populations from five ethnic groups: Russians, Byelorussians, Adygeis, Kalmyks and Yakuts. The analysis was carried out using PCR and electrophoresis followed by silver staining. Overall, 25 alleles of the 3' ApoB minisatellite, ranging from 25 to 55 repeats, were detected. Heterozygosity indices were high and varied from 0.73 to 0.84. The distributions of alleles of this minisatellite in the Caucasoid populations (Russians, Byelorussians and Adygeis) had a bimodal character, whereas that for Mongoloid populations (Kalmyks and Yakuts) had a unimodal distribution. Nei's genetic distances between the populations studied and some reference populations of Europe and Asia were estimated. Despite their allele distribution homogeneity, different East Slavonic ethnic groups were clearly resolved by multidimensional analyses. The East Slavonic and Adygei populations revealed a high similarity with European Caucasoids. The Mongoloid populations (Kalmyks and Yakuts) were considerably different from those of the European Caucasoid populations, but were similar to other Asian Mongoloid populations. The results demonstrate the variability of 3' ApoB minisatellite polymorphism not only in distant populations but also, to a certain extent, in genetically relative ones.

Comparative data on the distribution of immunological markers (AB0 and RH), serum proteins (HP, TF, GC, PI, and C3), and red cell enzymes (PGM1, ACP1, ESD, and GLO1) polymorphisms in Yakut populations from three regions of the Republic are presented. Close genetic affinities of Yakuts to Altaians, Mongols, and Buryats along with their notable difference from Evenks, Evens, and Chukchi were demonstrated.

This article examines evidence for elevations in basal metabolic rate (BMR) among indigenous Northern (circumpolar) populations and considers potential mechanisms and the adaptive basis for such elevations. Data on BMR among indigenous (n = 109 males; 122 females) and nonindigenous (n = 15 males; 22 females) circumpolar groups of North America and Siberia are compiled and compared to predicted BMRs based on three different references: body surface area (Consolazio et al., 1963), body mass (Schofield, 1985), and fat-free mass (Poehlman and Toth, 1995). Regardless of which reference is used, indigenous circumpolar groups show systematic and statistically significant elevations in BMR ranging from +7% to +19% above predicted values for indigenous men and from +3 to +17% for indigenous women. Nonindigenous males also show elevations in BMR, although not to the same extent as in indigenous men (deviations = +3 to +14%), whereas nonindigenous females show no clear evidence of elevated BMRs (deviations = -7 to +5%). This pattern of variation between indigenous and nonindigenous groups suggests that both functional and genetic factors play a role in metabolic adaptation to northern climes. Recent studies on the ecology and genetics of thyroid function offer insights into the mechanisms through which indigenous circumpolar populations may regulate metabolic rates. Studies of seasonal variation in thyroid hormone levels suggest that indigenous circumpolar populations may have a greater capacity to elevate BMR during severe cold than nonindigenous groups. Recent twin studies indicate a significant genetic component of thyroid responses to environmental stressors. Further research exploring the genetics of seasonal variation in thyroid function and BMR among circumpolar groups would advance understanding of the role that selection may have played in shaping metabolic variation.

In Yakut populations examined, polymorphisms of immunological and serum protein markers, including AB0 and Rhesus blood groups, HP, TF, GC, PI and C3, were revealed. Gene frequencies for the systems studied fell into the following ranges: AB0 system: r, 0.514 to 0.663; p, 0.136 to 0.306; q, 0.110 to 0.337; haptoglobin HP*1: 0.214 to 0.431; transferrin TF*C: 0.700 to 1.0; group specific component GC*1: 0.821 to 0.978; PI*M1 proteinase inhibitor (or alpha 1-antitrypsin) PIM1: 0.860 to 0.946; and third component of the complement C3*F: 0.031 to 0.143.

Phenotype and allele frequencies of the genetically dimorphic system determining urinary excretion of beta-aminoisobutyric acid (BAIB) were studied in population samples of Buryats from the Aginskii Buryat Autonomous District and Lithuanians from Vilnius and in patients with coronary atherosclerosis (CA) from both populations. Frequency of allele BAIB*b, which determines high BAIB excretion, proved to be more than twice higher in Buryats compared with the population sample of Lithuanians (0.620 versus 0.289, respectively). The proportion of individuals with high BAIB excretion in CA patients of either ethnic sample was twice higher than in the corresponding control sample. Frequency of allele BAIB*b in CA patients and healthy individuals was 0.348 and 0.242, respectively, in the Lithuanian population and 0.775 and 0.557, respectively, in the Buryat population. Thus, assessment of urinary excretion of BAIB proved to be prognostically valuable. The method used to detect a variation in BAIB excretion is relatively inexpensive, simple, and suitable for mass screening of patients and healthy individuals (population control). After additional testing with representative samples, the method can be used as an accessory diagnostic test in patients with cardiovascular disorders.

Comprehensive analysis of the contribution of genetic factors into predisposition to alcoholic toxic cirrhosis (TC) was performed. The ABO, RH, HP, TF, GC, PI, ACP1, PGM1, ESD, GLO1, and GST1 genetic polymorphisms were compared in 34- to 59-year-old male TC patients and control donors of the same sex and age. The phenotypic frequencies in the TC group deviated from the theoretically expected values; the main difference was the excess of rare homozygotes for the loci GC, ACP1, ESD, and GLO1. In the TC patients, the observed heterozygosity (Ho) was considerably lower than the theoretically expected value (H(e)). Wright's fixation index (F) in the TC patients was 30 times higher than in the control group (0.0888 and 0.0027, respectively). The frequencies of PI*Z and PI*S, the PI alleles that are responsible for lower concentrations of proteinase inhibitor, were 12 and 6 times higher in the TC than in the control group. The TC patients exhibited a significantly higher frequency of the liver glutathione-S-transferase GST1*0 allele, whereas the GST1*2 frequency was two times higher in the control subjects than in the TC patients (0.2522 and 0.0953, respectively). The TC and control groups showed statistically significant differences in the frequencies of the following alleles of six independent loci: ABO*0, TF*C1, TF*C2, PI*M1, PI*Z, ACP1*C, PGM1*1+, PGM1*1-, PGM1*2-, GST1*0, and GST1*2. The haptoglobin level was significantly higher and the serum transferrin level was drastically lower in all phenotypic groups of TC patients than in control subjects. The concentrations of IgM and IgG depended on the HP, GC, and PI phenotypes. The total and direct reacting bilirubin concentrations depended on the erythrocytic-enzyme phenotypes (ACP1, PGM1, and GLO1) in both TC and control groups.

Allele frequency distributions of the insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme (ACE) gene and the M235T polymorphism of the angiotensinogen gene was studied in a random sample of the indigenous population of the Sakha Republic. The allelic variants of these genes did not showed an association with blood pressure in Yakuts.

Frequency distribution of several genetic markers was studied in ethnic Russians from the Moscow, Bryansk, Ryazan', Kostroma, Novgorod, Arkhangel'sk, and Sverdlovsk oblasts and Udmurtiya. Systems AB0, RH, HP, TF, GC, PI, C'3, ACP1, PGM1, ESD, GLO1, 6PGD, and AK were analyzed in most samples. New data on informative polymorphic genetic loci showed that the Russian gene pool mostly displays Caucasoid features. In addition, Y-chromosomal short tandem repeats (STRs) DYS19, DYS390, and YCAII were analyzed in the Russian samples. STRs of the chromosome are particularly valuable for elucidating ethnogenetic processes in Eastern Europe. Frequency distributions of the Y-chromosomal markers in Russians were intermediate between those of West European populations and eastern Finno-Ugric ethnoses of the Volga region. A marked longitudinal gradient was revealed for frequencies of several molecular markers.

There were examined 135 patients with perforative ulcer of the gastric terminal portion (GTP) and of duodenum. Performance of duodeno- or gastroduodenoplasty without vagotomy, the correcting therapy conduction in early postoperative period had promoted the normalization of the GTP motor function and the gastric acid output reduction in late follow-up period, trusting the expediency of organ-preserving operation conduction without vagotomy as radical method of the complicated ulcer disease treatment.

Models of geographic distribution of 33 alleles of 10 loci (AB0, TF, GC, PI, HP, AHS, F13B, ACP1, PGM1, GLO1) in the indigenous population of five raions (districts) of Marii El Republic were analyzed by cartographic statistical methods. Based on 33 maps for individual alleles, synthetic maps were constructed; they reflected the general characteristics of the spatial variability of the Mari gene pool. A map of reliability of the synthetic maps was also obtained. This study was the first to use estimates of the reliability of the gene-geographic prognosis for constructing and interpreting the maps of principal components. Synthetic maps of principal components reveal the geography of the main factors that determine the genetic diversity of the Maris. In the map of the first principal component (accounting for 25.5% of the total variation of the Mari gene pool), isolines clearly ran in the latitudinal direction; i.e., the variability exhibited a north-south gradient. The direction of changes reflects the characteristic features of the microevolution of the Mari gene pool, because it differs from the direction of the principal components of in the total Ural gene pool. The second principal component (24.3% of variation) also exhibited a latitudinal gradient in the western part of Marii El. In the eastern part of the republic, isolines drastically change their direction and display a marked west-east gradient. This longitudinal orientation of principal components is characteristic of the Maris in the synthetic maps of the Ural region. Contributions of individual genes in the variation of principal components were analyzed. In proceeding from the geographic space to the space of principal components, it was found that Highland Maris are separated from Meadow Maris not only geographically, but also genetically.

A highly polymorphic microsatellite (CA)n-marker (CAct685) previously isolated from human chromosome 19 cosmid library was localized near GPI in 19q13.1. For the fine localization of this marker, the hybridization with chromosome 19-specific cosmid libraries assembled in contigs was used. Polymorphism analysis of the marker in 12 populations of Russia and neighboring countries showed 14 alleles containing from 16 to 30 repeat units. Populations belonging to Indo-European, Uralic and Altaic linguistic families demonstrated a great similarity in allele frequency profiles. Differences between these populations were lower for CAct685 than for classical markers. Allele distribution of CAct685 in a Chukchi population belonging to the Chukchi-Kamchatkan linguistic family differs from those in all other populations, that may be typical for Mongoloid population or reflect an ethnic history of Chukchi as a small population. Thus use of the CAct685 marker seems to be effective for analysis of distant peoples.

The geographic distribution of the frequencies of genes related to the immunological and biochemical polymorphism was studied in the Maris, who are the indigenous population of the Marii El Republic. Data on the frequencies of 33 alleles of 10 loci (ABO, TF, GC, PI, HP, AHS, F13B, ACP1, PGM1, and GLO1) in five raions (districts) of Marii El were obtained. Computer interpolation maps were constructed for all alleles. The maps allows to predict the distribution of the alleles throughout Marii El. A map of the reliability of the cartographic prediction was drawn. For the first time, the reliability of predicted gene frequencies were taken into account in constructing and interpreting the maps of gene frequencies. For the entire set of the studied genes, parameters of heterozygosity (HS) and gene diversity (GST) were estimated. Cartographic correlation analysis was performed to reveal the relationship between gene frequencies and geographic coordinates. It was found that 42% of the studied genes predominantly correlated with latitude and 9% with longitude. It was assumed that the genetic structure of Mari populations had been mainly determined by latitude-related factors. A map of Nei's genetic distances between the overall Mari gene pool and the local populations revealed a central core, which was close to the "average Mari" gene pool, and a periphery, which was genetically distant from it. Suggestions on the microevolution of the Mari gene pool were advanced. Maps of the genes with the most characteristic genetic relief (ABO*B, ACP*A, TF*D, GC*1F, PI*M2, HP*1F, and F13B*3) are shown. These maps exhibit a high correlation with the maps of principal components.

We studied the possible effects of climatic factors on the world distribution of alleles determining alpha 2-HS-glycoprotein (AHSG) phenotypes in human populations. New data on AHSG polymorphism in certain ethnic groups of Russia are presented. All available data on the distribution of AHSG gene frequencies in the world (number of populations n = 51) were used to analyze possible correlations between AHSG*2 allele frequencies and seven climatic-geographic parameters. A strong positive correlation was found between AHSG*2 allele frequency and geographic latitude of territories inhabited by the study populations (r = 0.814). The dependence of the AHSG*2 allele distribution in the world on the intensity of ultraviolet radiation (400-315 nm) was estimated at r = -0.826. Such climatic characteristics as the total amount of insolation and the average annual temperature proved to make equal contributions to variation in AHSG*2 allele frequency (r = -0.683 and -0.658, respectively). A computer cartographic model of the AHSG*2 allele distribution in the Old World populations of the Northern Hemisphere was constructed.

We report a dinucleotide repeat polymorphism in the 3′ area of the mitochondrial control region. The fragments obtained using a new primer set could be reliably separated by polyacrylamide gel electrophoresis (PAGE) using nondenaturing gels. A total of five alleles [(CA)3 to (CA)7] were detected on silver-stained gels. The 90 bp product corresponds to allele 5. Samples from one African and three European populations were characterized. Significant differences could be demonstrated as to the incidence of single alleles and allele distributions in different populations. These differences were found between the three European and one African Bantu population. For specific forensic questions the mitochondrial CA repeat is well suited. Gene diversities in populations of Germany, Hungary, the Russian Federation and Cameroon were 0.36, 0.40, 0.34, 0.52, respectively.

This paper is the first in a series devoted to the investigation of the possible effect of maternal genotype on the levels of fetal alpha-fetoprotein (AFP) and human chorionic gonadotrophin (HCG) entering maternal blood. We studied the possible association between the maternal haptoglobin system and levels of maternal AFP and HCG, which are markers of fetal pathology. Haptoglobin types were determined in groups of pregnant women with different levels of serum markers. Distribution of haptoglobin types differed from the theoretically expected in one out of five groups tested. In the group with low AFP level, a significant decrease in frequency of the Hp*2 allele was found. A statistically significant decrease of the mean haptoglobin concentration in the group with low levels of AFP and elevated levels of HCG was observed. A reduction in serum haptoglobin concentration was shown to be accompanied by a decrease of serum iron concentration. The possible mechanism underlying the influence of maternal genotype on the levels of AFP and HCG in maternal blood are discussed.

The genetic structure of the Mari population was studied by genetic markers (ABO, TF, GC, PI, HP, ACP1, PGM1). Nei's GST statistic was 0.0192, showing that 1.92% of the genetic diversity in the Mari population can be attributed to the subdivision effect. Genetic distances between Maris and other Finno-Ugric groups were estimated.

Data on DNA and enzyme polymorphisms of human placental alkaline phosphatase (PLAP) in Mordvinian populations are presented. Restriction fragment length polymorphism (RFLP) was detected after the digestion of DNA samples with Rsa I and Pst I endounucleases. The frequencies of the second (2) allele for PLAP Pst I and Rsa I were 0.53 and 0.192, respectively. Comparative data suggest that there are no population differences between Mordvinians and Scandinavian ethnic groups. In Mordvinians gene frequencies measured at the level of gene products were PLAP*1(S) = 0.681, PLAP*2(F) = 0.244, PLAP*3(I) = 0.069, and PLAP*18(D) = 0.006, indicating the similarity of the corresponding values in Scandinavians. The observed RFLP and "protein" genotype frequencies were in good agreement with that expected according to the Hardy-Weinberg equation. In the Mordvinian population, as in those, surveyed previously, a strong linkage disequilibrium between Pst I and Rsa I PLAP alleles was observed.

Under study were results of antibacterial therapy used in 40 patients with rheumatic heart diseases operated upon under conditions of artificial blood circulation. A conclusion is made that preventive endolymphatic infusion of antibiotics is expedient.

Analysis of structural variation in enzymes and other proteins of human milk revealed polymorphism of the protein exhibiting cholinesterase activity. The distribution of cholinesterase activity zones after electrophoresis of milk proteins in polyacrylamide gel differs from the pattern typical for serum cholinesterase. Samples of milk taken from 132 recently confined Russian women, which were obtained from Moscow district maternity hospital, were subjected to population analysis. Four phenotypes of the locus designated as E3, have been identified: 1-1, 2-1, 2-2 and 3-1. Preliminary visual evaluation of the electrophoretic pattern allows as to differentiate phenotypes in the following order according to enzyme activity: 2-22-13-11-1. It seems most probable that the revealed variants of cholinesterase E3 are determined by three alleles of one autosomic locus with the following frequencies: E3*1 = 0.8296; E3*2 = 0.1629 and E3*3 = 0.0075. The obtained distribution of E3 phenotypes is in good agreement with the expected one with chi 2(1) = 0.9378.

New information on maximal possible potential selection and its component values in some ethno-territorial groups in CIS was presented. The heterogeneity observed in the Crow's index and its components can be explained as a result of the differences in the social economic status of the groups studied and the influence of climate geographical factors. The data gathered during the biodemographical study of 67 populations allowed to detect regularities of the effects of selective factors in world population: non-random and discrete nature of considered populations distribution in the coordinate space of selection components associated with differential mortality (I) and differential fertility (I) was shown. Differentiation of three big aggregations of populations was shown: urbanized contemporary communities with low I values; small endogamous populations, mostly of hunters and gatherers; small towns' populations and rural populations with balanced reproductive indices. Microevolutionary changes take place in the latter conglomerate even now, statistically subdividing it into two clusters. A proposition was made about the existence of "ecological optimum" for populations intermediate between advanced industrial communities and communities of hunters and gatherers, corresponding to the population size and the nature and rate of population reproduction.