A Y‐chromosomal comparison of the Madjars (Kazakhstan) and the Magyars (Hungary)

The Madjars are a previously unstudied population from Kazakhstan who practice a form of local exogamy in which wives are brought in from neighboring tribes, but husbands are not, so the paternal lineages remain genetically isolated within the population. Their name bears a striking resemblance to the Magyars who have inhabited Hungary for over a millennium, but whose previous history is poorly understood. We have now carried out a genetic analysis of the population structure and relationships of the Madjars, and in particular have sought to test whether or not they show a genetic link with the Magyars. We concentrated on paternal lineages because of their isolation within the Madjars and sampled males representing all extant male lineages unrelated for more than eight generations (n = 45) in the Torgay area of Kazakhstan. The Madjars show evidence of extensive genetic drift, with 24/45 carrying the same 12‐STR haplotype within haplogroup G. Genetic distances based on haplogroup frequencies were used to compare the Madjars with 37 other populations and showed that they were closest to the Hungarian population rather than their geographical neighbors. Although this finding could result from chance, it is striking and suggests that there could have been genetic contact between the ancestors of the Madjars and Magyars, and thus that modern Hungarians may trace their ancestry to Central Asia, instead of the Eastern Uralic region as previously thought. Am J Phys Anthropol 2009. © 2009 Wiley‐Liss, Inc.     

Influence of population density on group sizes in goitered gazelle (Gazella subgutturosa Guld., 1780)

We conducted our study in Ili depression, south-eastern Kazakhstan during 1981–1989 to investigate how group sizes and group class frequencies change with increasing population densities in goitered gazelles. In addition, we compared our study to data on group size and group class frequency of various goitered gazelle populations in Kazakhstan with very variable population densities. We found that mean group size was a more variable index than group class frequency. Population density had some effect on mean group sizes, but the strength of the influence was quite weak, and only in cases where densities of two populations varied more than sevenfold did group sizes start to change. Group class frequency was not correlated with population density at all. The impact of the yearly breeding cycle on group size was bigger than population density. The density-dependent response of goitered gazelle population was curvilinear in fashion, and it may be classified as intermediate between social-dwelling ungulate species, living in large groups and demonstrating continuous (linear) increases of group size with population density and those that are solitary or territorial ungulate species with no relationship between population size and group size, though the goitered gazelle population’s weak response was distinctively closer to the one of solitary ungulate species.     

The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel

The Israeli population mainly includes Jews, Muslim and Christian Arabs, and Druze In the last decade, data on genetic diseases present in the population have been systematically collected and are available online in the Israeli national genetic database (). In the non-Jewish population, up to 1 July 2010, the database included molecular data on six diseases relatively frequent in the whole population: thalassemia, familial Mediterranean fever (FMF), cystic fibrosis, deafness, phenylketonuria and congenital adrenal hyperplasia, as well as data on 195 autosomal recessive diseases among Muslim Israeli Arabs, 11 among the Christian Arabs and 31 among Druze. A single mutation was characterized in 149 out of the 238 rare disorders for which the molecular basis was known. In many diseases, mutation had never been observed in any other population and was present in one family only suggesting that it occurred as a de novo event. In other diseases, the mutation was present in more than one community or even in other populations such as Bedouins from the Arab peninsula or Christians from Lebanon. In the 89 other disorders, more than one mutation was characterized either in the same gene or in more than one gene. While it is probable that most of these cases represent random events in some cases such as Bardet Biedl among the Bedouins, the reason may be a selective advantage to the heterozygotes.     

Effects of emerging infectious diseases on host population genetics: a review

Emerging infectious diseases threaten the survival of many species and populations by causing large declines and altering life history traits and population demographics. Therefore, it is imperative to understand how diseases impact wildlife populations so that effective management strategies can be planned. Many studies have focused on understanding the ecology of host/pathogen interactions, but it is equally important to understand the effects on host population genetic structure. In this review, we examined the literature on how infectious diseases influence host population genetic makeup, with a particular focus on whether or not they alter gene flow patterns, reduce genetic variability, and drive selection. Although the results were mixed, there was evidence for all of these outcomes. Diseases often fragmented populations into small, genetically distinct units with limited gene flow among them. In some cases, these isolated populations showed the genetic hallmarks of bottlenecks and inbreeding, but in other populations, there was sufficient gene flow or enough survivors to prevent genetic drift and inbreeding. Direct evidence of diseases acting as selective pressures in wild populations is somewhat limited, but there are several clear examples of it occurring. Also, several studies found that gene flow can impact the evolution of small populations either beneficially, by providing them with variation, or detrimentally, by swamping them with alleles that are not locally adaptive. Thus, differences in gene flow levels may explain why some species adapt while others do not. There are also intermediate cases, whereby some species may adapt to disease, but not at a rate that is meaningful for conservation purposes.     

Comparison of influenza outbreaks in the Republic of Kazakhstan and Russia induced by 2009 yearly new variant of A(H1N1) influenza virus

The aim of the work is the comparison of the epidemiology of influenza and acute respiratory virus infections(ARVI)in the Republic of Kazakhstan with the corresponding influenza epidemic in Russia induced by influenza pandemic virus A/California/07/2009 in 2009. Data on influenza and ARVI from the Republic of Kazakhstan and Federal Center of influenza was collected and investigated over the course of several weeks from hospitalized patients with the same diagnosis among all population and in age groups on 16 territories of Kazakhstan and in 49 major cities of Russia. The epidemic in Kazakhstan resembled the Russian epidemic in terms of its abnormally early beginning,expression of monoaetiology,the spread of the epidemic into all territories and start of the epidemics among adult population. High percentage of hospitalized people and lethal outcome were registered in this epidemic. Similarity of epidemic process character in corresponding border-line territories of both countries was found out.     

Low levels of genetic divergence across geographically and linguistically diverse populations from India

Ongoing modernization in India has elevated the prevalence of many complex genetic diseases associated with a western lifestyle and diet to near-epidemic proportions. However, although India comprises more than one sixth of the world's human population, it has largely been omitted from genomic surveys that provide the backdrop for association studies of genetic disease. Here, by genotyping India-born individuals sampled in the United States, we carry out an extensive study of Indian genetic variation. We analyze 1,200 genome-wide polymorphisms in 432 individuals from 15 Indian populations. We find that populations from India, and populations from South Asia more generally, constitute one of the major human subgroups with increased similarity of genetic ancestry. However, only a relatively small amount of genetic differentiation exists among the Indian populations. Although caution is warranted due to the fact that United States–sampled Indian populations do not represent a random sample from India, these results suggest that the frequencies of many genetic variants are distinctive in India compared to other parts of the world and that the effects of population heterogeneity on the production of false positives in association studies may be smaller in Indians (and particularly in Indian-Americans) than might be expected for such a geographically and linguistically diverse subset of the human population.     

Modernization, stress, and blood pressure: new directions in research.

The relationship between modernization and blood pressure has been formally examined in anthropology for some 3 decades. A prominent hypothesis to account for the increase in blood pressure in more modernized (or economically developed) communities is the stressful nature of cultural and social change. Research has progressed from hypothesizing that culture change is stressful to trying to operationalize theoretical models of what it is about culture change that is stressful and in turn relating those more precise variables to blood pressure variability within and between communities. Here, I selectively review the literature on modernization and blood pressure, especially the research literature that explicitly uses models of the stress process to guide that research. The most interesting results have been obtained when the use of the stress model has been informed by careful ethnographic work. This has enabled researchers to adapt models of the stress process to be culturally appropriate in local populations. In addition, incorporating an explicit model of culture, especially one that is sensitive to intracultural diversity, has led to new hypotheses regarding the modification of the effects of stressors by social and cultural context. I conclude with a discussion of recent innovations in ethnographic methods, specifically the cultural consensus model, and the use of those methods in operationalizing relevant variables in culturally appropriate and sensitive ways. The utility of combining these methods in the study of modernization and blood pressure is illustrated by recent research in Brazil.     

Phylogenetic analysis of the non-structural (NS) gene of influenza a viruses isolated in Kazakhstan in 2002–2009

Although the important role of the non-structural (NS1 and NEP) gene of influenza A in virulence of the virus is well established, our knowledge about the extent of variation in the NS gene pool of influenza A viruses in their natural reservoirs in Kazakhstan is incomplete. 17 influenza A viruses of different subtypes were studied in this paper. Seven types of haemagglutinin and five different neuraminidase subtypes in eight combinations were found among the isolated viruses. A comparison of nucleotide sequences of isolated viruses revealed a substantial number of silent mutations, which results in high degree of homology in amino acid sequences. By phylogenetic analysis it was shown that two distinct gene pools, corresponding to both NS allele A with 5 Clades and B, were present at the same time in Kazakhstan. The degree of variation within the alleles was very low. In our study allele A viruses had a maximum of 5% amino acid divergence in Clade while allele B viruses had only 4% amino acid divergence.     

Phylogenetic Analysis of the Non-structural (NS) Gene of Influenza A Viruses Isolated in Kazakhstan in 2002-2009

Although the important role of the non-structural (NSI and NEP) gene of influenza A in virulence of the virus is well established,our knowledge about the extent of variation in the NS gene pool of influenza A viruses in their natural reservoirs in Kazakhstan is incomplete.17 influenza A viruses of different subtypes were studied in this paper.Seven types of haemagglutinin and five different neuraminidase subtypes in eight combinations were found among the isolated viruses.A comparison of nucleotide sequences of isolated viruses revealed a substantial number of silent mutations,which results in high degree of homology in amino acid sequences.By phylogenetic analysis it was shown that two distinct gene pools,corresponding to both NS allele A with 5 Clades and B,were present at the same time in Kazakhstan.The degree of variation within the alleles was very low.In our study allele A viruses had a maximum of 5％ amino acid divergence in Clade while allele B viruses had only 4％ amino acid divergence.     

Mortality recovery and stabilization in Kazakhstan, 1995–2001

This paper documents both the extraordinary rise in mortality that accompanied economic deterioration in the former Soviet Republic of Kazakhstan, as well as the far more tentative recovery. Kazakhstan's multi-ethnic population also makes it possible to identify a large mortality disadvantage for those--especially working-age males--who are not of Kazakh ethnicity. There are also stark regional differences--mortality decline is underway in many areas with substantial economic recovery, while elsewhere there has been no discernable improvement.     

Persistent and novel threats to the biodiversity of Kazakhstan’s steppes and semi-deserts

Temperate grasslands have suffered disproportionally from conversion to cropland, degradation and fragmentation. A large proportion of the world’s remaining near-natural grassland is situated in Kazakhstan. We aimed to assess current and emerging threats to steppe and semi-desert biodiversity in Kazakhstan and evaluate conservation research priorities. We conducted a horizon-scanning exercise among conservationists from academia and practice. We first compiled a list of 45 potential threats. These were then ranked by the survey participants according to their perceived severity, the need for research on them, and their novelty. The highest-ranked threats were related to changes in land use (leading to habitat loss and deterioration), direct persecution of wildlife, and rapid infrastructure development due to economic and population growth. Research needs were identified largely in the same areas, and the mean scores of threat severity and research need were highly correlated. Novel threats comprised habitat loss by photovoltaic and wind power stations, climate change and changes in agriculture such as the introduction of biofuels. However, novelty was not correlated with threat severity or research priority, suggesting that the most severe threats are the established ones. Important goals towards more effective steppe and semi-desert conservation in Kazakhstan include more cross-sector collaboration (e.g. by involving stakeholders in conservation and agriculture), greater allocation of funds to under-staffed areas (e.g. protected area management), better representativeness and complementarity in the protected area system and enhanced data collection for wildlife monitoring and threat assessments (including the use of citizen-science databases).     

A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population

The decreasing cost of whole-genome and whole-exome sequencing has resulted in a renaissance for identifying Mendelian disease mutations, and for the first time it is possible to survey the distribution and characteristics of these mutations in large population samples. We conducted carrier screening for all autosomal-recessive (AR) mutations known to be present in members of a founder population and revealed surprisingly high carrier frequencies for many of these mutations. By utilizing the rich demographic, genetic, and phenotypic data available on these subjects and simulations in the exact pedigree that these individuals belong to, we show that the majority of mutations were most likely introduced into the population by a single founder and then drifted to the high carrier frequencies observed. We further show that although there is an increased incidence of AR diseases overall, the mean carrier burden is likely to be lower in the Hutterites than in the general population. Finally, on the basis of simulations, we predict the presence of 30 or more undiscovered recessive mutations among these subjects, and this would at least double the number of AR diseases that have been reported in this isolated population.     

Problems of the complex assessment of radiobioecological situation and public health in uranium-extraction regions of Kazakhstan

In the article was considered main direction in investigation and methodological approach in the estimations of radiobioecological situation and condition health of population in the uranium-extraction regions of Kazakhstan. Elimination of consequences of uranium extraction in Kazakhstan is only possible with a broad scientific cooperation and combined resources and man-power from Kazakhstan, from former Soviet Union countries and from other countries.     

Inflammation — a lifelong companion

Inflammation is a key component of the immune system. It has important functions in both defense and pathophysiological events maintaining the dynamic homeostasis of a host organism including its tissues, organs and individual cells. On the cellular level it is controlled by more than 400 currently known genes. Their polymorphisms and environmental conditions give rise to different genotypes in human population. Pro-inflammatory genotype, which dominates in the present population, may be advantageous in childhood but not in elderly people because it is characterized by an increased vulnerability to, and intensity of, inflammatory reactions. These reactions may be the possible reasons of chronic inflammatory diseases, especially in old age. Better understanding of complex molecular and cellular inflammatory mechanisms is indispensable for detailed knowledge of pathogenesis of many diseases, their prevention and directed drug therapy. Here we summarize the basic current knowledge on these mechanisms.     

Comparison of Influenza Outbreaks in the Republic of Kazakhstan and Russia Induced by 2009 Yearly New Variant of А(H1N1) Influenza Virus

The aim of the work is the comparison of the epidemiology of influenza and acute respiratory virus infections (ARVI) in the Republic of Kazakhstan with the corresponding influenza epidemic in Russia induced by influenza pandemic virus A/California/07/2009 in 2009.Data on influenza and ARVI from the Republic of Kazakhstan and Federal Center of influenza was collected and investigated over the course of several weeks from hospitalized patients with the same diagnosis among all population and in age groups on ...     

Relationship between demographics and diet specificity of Imperial Eagles Aquila heliaca in Kazakhstan

The demographic consequences of within-population variability in predator foraging are not well understood. We assessed the relationship between the degree of diet specialization and two demographic parameters, population density and reproductive output, within a single population of Imperial Eagles Aquila heliaca at a nature reserve in north-central Kazakhstan. Nearest-neighbour distances between eagle nests throughout the reserve, and thus population density, were correlated with the degree to which diets were specialized. Diet diversity showed an extensive regional variability that was linked to prey distributions, but within-year analyses of reproductive output did not show similar linkages. However, multi-year analyses of breeding performance showed inter-regional differences in nesting success that were paralleled, and probably driven by, similar trends in diet diversity. In contrast, brood size at fledging was not linked to diet diversity and was more probably driven by reserve-wide influences such as weather. Finally, the decision to initiate breeding was associated neither with diet diversity nor with environmental variability. Our results indicate that the degree of dietary specialization is linked to the demographics of Imperial Eagle populations. For these and other raptor populations, it is possible that management could be used separately to increase or decrease nesting success, brood size at fledging, and the likelihood that a pair will initiate breeding.     

Evolutionary relationships and reproductive isolating mechanisms in the rice frog (Fejervarya limnocharis) species complex from Sri Lanka, Thailand, Taiwan and Japan, inferred from mtDNA gene sequences, allozymes, and crossing experiments

The rice frog (Fejervarya limnocharis) species complex is widely distributed, from India to Japan, and most prevalently in Southeast Asia. Conspicuous morphological variation has been reported for this species complex throughout its distribution range. In the present study, we used mtDNA gene sequence and allozyme analyses to infer evolutionary affinities within this species complex using eight populations (Sri Lanka; Bangkok and Ranong in Thailand; Taiwan; and Hiroshima, Okinawa, Ishigaki and Iriomote in Japan). We also conducted crossing experiments among four populations from Japan, Thailand, and Sri Lanka in order to find out more about the reproductive isolating mechanisms that might exist among the East, Southeast, and South Asian populations of this species complex. The crossing experiments revealed that the Sri Lanka population is reproductively isolated from the Hiroshima, Bangkok, and Ranong populations by complete hybrid inviability, and that the Bangkok population may be reproductively isolated from the Hiroshima population by partial hybrid inviability. Thus, it is not unreasonable to regard the Sri Lanka population as a species separated from F. limnocharis. The mtDNA and allozyme data showed that the Ranong population is most closely related to the Bangkok population in nuclear genome, but more similar to the Okinawa and Taiwan populations in mtDNA genome. The present, preliminary survey may raise questions about the species status of these particular populations and also about the nature of the biological species concept.     

The etiological structure of acute intestinal infections in children in the Republic of Tajikistan]

The Republic of Tajikistan belongs to the territories, traditionally hyperendemic with respect to acute enteric diseases (AED). The problem of AED still remains topical in recent years, especially among child population. The study of the etiological structure of AED in children has made it possible to establish that more than 70% of these diseases are of infectious nature. The leading role in the etiological structure of these diseases belongs to Shigella infections (32.4%), enterovirus diarrhea (12.1%) and Escherichia infections (8.9%). No significant differences in the character of the etiological structure of AED in children of urban and rural areas have been detected with the exception of enterovirus diarrhea, found to occur 2.7 times more frequently on children of urban areas (15.9%) than in those of rural areas (5.8%). The ascertaining of the etiological structure of AED in Tajikistan will make it possible to essentially increase epidemiological surveillance on AED and render it more concrete.     

Alcoholism and rising mortality in the Russian Federation.

In the Russian Federation today the high incidence of alcoholism and drunkenness helps to account for rising death rates, more particularly among the male population. During the mid-1980s a significant reduction in deaths from alcohol related diseases was achieved by state action in curtailing the supply of alcohol. However, official data disclose a pattern of sharply increased consumption per head since 1987, with high proof drinks--especially vodka--now forming a larger share in the total. In current economic conditions the effects of a traditional macho drinking culture are exacerbated by a reduction of state control over the quality of alcohol available for purchase. A substantial increase has occurred in deaths from most principal causes, with a disproportionate increase in deaths from non-natural causes, including deaths caused predominantly by alcohol. Average expectation of life at birth has fallen especially sharply for men; by 1993 it had slumped to 59.0 years--that is, to below the age at which a pension starts to be paid.     

Forward-time simulations of human populations with complex diseases

Due to the increasing power of personal computers, as well as the availability of flexible forward-time simulation programs like simuPOP, it is now possible to simulate the evolution of complex human diseases using a forward-time approach. This approach is potentially more powerful than the coalescent approach since it allows simulations of more than one disease susceptibility locus using almost arbitrary genetic and demographic models. However, the application of such simulations has been deterred by the lack of a suitable simulation framework. For example, it is not clear when and how to introduce disease mutants—especially those under purifying selection—to an evolving population, and how to control the disease allele frequencies at the last generation. In this paper, we introduce a forward-time simulation framework that allows us to generate large multi-generation populations with complex diseases caused by unlinked disease susceptibility loci, according to specified demographic and evolutionary properties. Unrelated individuals, small or large pedigrees can be drawn from the resulting population and provide samples for a wide range of study designs and ascertainment methods. We demonstrate our simulation framework using three examples that map genes associated with affection status, a quantitative trait, and the age of onset of a hypothetical cancer, respectively. Nonadditive fitness models, population structure, and gene–gene interactions are simulated. Case-control, sibpair, and large pedigree samples are drawn from the simulated populations and are examined by a variety of gene-mapping methods.