We present here the results of the Analysis of HLA Population Data (AHPD) project of the 16th International HLA and Immunogenetics Workshop (16IHIW) held in Liverpool in May-June 2012. Thanks to the collaboration of 25 laboratories from 18 different countries, HLA genotypic data for 59 new population samples (either well-defined populations or donor registry samples) were gathered and 55 were analysed statistically following HLA-NET recommendations. The new data included, among others, large sets of well-defined populations from north-east Europe and West Asia, as well as many donor registry data from European countries. The Gene[rate] computer tools were combined to create a Gene[rate] computer pipeline to automatically (i) estimate allele frequencies by an expectation-maximization algorithm accommodating ambiguities, (ii) estimate heterozygosity, (iii) test for Hardy-Weinberg equilibrium (HWE), (iv) test for selective neutrality, (v) generate frequency graphs and summary statistics for each sample at each locus and (vi) plot multidimensional scaling (MDS) analyses comparing the new samples with previous IHIW data. Intrapopulation analyses show that HWE is rarely rejected, while neutrality tests often indicate a significant excess of heterozygotes compared with neutral expectations. The comparison of the 16IHIW AHPD data with data collected during previous workshops (12th-15th) shows that geography is an excellent predictor of HLA genetic differentiations for HLA-A, -B and -DRB1 loci but not for HLA-DQ, whose patterns are probably more influenced by natural selection. In Europe, HLA genetic variation clearly follows a north to south-east axis despite a low level of differentiation between European, North African and West Asian populations. Pacific populations are genetically close to Austronesian-speaking South-East Asian and Taiwanese populations, in agreement with current theories on the peopling of Oceania. Thanks to this project, HLA genetic variation is more clearly defined worldwide and better interpreted in relation to human peopling history and HLA molecular evolution.
We have characterized the HLA-A, -B, -DRB1, -DQA1 and -DQB1 profiles of three major ethnic groups living in Chelyabinsk Region of Russian South Urals, viz., Russians (n = 207), Bashkirs (n = 146) and Tatars (n = 135). First field level typing was performed by PCR using sequence-specific primers. Estimates included carriage and gene frequencies, linkage disequilibrium and its significance and related values. Population comparisons were made between the allele family frequencies of the three populations and between these populations and 20 others using a dendrogram. Chelyabinsk Region Russians demonstrate all the features typical of a Caucasoid population, but also have some peculiarities. Together with Tatars, Russians have high frequencies of allele families and haplotypes characteristic of Finno-Ugric populations. This presupposes a Finno-Ugric impact on Russian and Tatar ethnogenesis. However, this was not apparent in Bashkirs, the first of the three populations to live in this territory, and implies admixture with populations of a Finno-Ugric origin with precursors of Russians and Tatars before they came to the South Urals. The Bashkirs appear close to Mongoloids in allele and haplotype distribution. However, Bashkirs cannot be labelled either as typical Mongoloids or as Caucasoids. Thus, Bashkirs possess some alleles and haplotypes frequent in Mongoloids, which supports the Turkic impact on Bashkir ethnogenesis, but also possess the AH 8.1 haplotype, which could evidence an ancient Caucasoid population that took part in their ethnic formation or of recent admixture with adjacent populations (Russians and Tatars). Bashkirs showed no features of populations with a substantial Finno-Ugric component, for example Chuvashes or Russian Saami. This disputes the commonly held belief of a Finno-Ugric origin for Bashkirs. Tatars appeared close to many European populations. However, they possessed some characteristics of Asiatic populations possibly reflecting a Mongoloid influence on Tatar ethnogenesis. Some aspects of HLA in Tatars appeared close to Chuvashes and Bulgarians, thus supporting the view that Tatars may be descendents of ancient Bulgars.
The Chelyabinsk Region (Southern Urals) is high endemic territory. The TBE incidence is 3.57 ± 1.7 per 100 000 of population. A level of vaccination against TBE increased from 0.3 to 34.8% in 1999 - 2013. Specific immunity of population in 35.9% is connected with vaccination, in 64.1% with natural immunity consequently latent contact with TBE virus. Dynamics of vaccinal prevention, increasing of population immunity in different landscapes, and in different age groups were studied. 77.7% of TBE patients did not vaccinated, 18.2% received of specific immunoglobulin at postexposition and 3.7% persons were vaccinated. Unusual lethal case in patient, who received 8 doses of vaccine is analysed in this article.
Modern approaches in the provision of medical services, the need to comply with the procedures and standards of medical care imply the use of effective methods of managing the resources of the medical organization. It is these requirements that make it imperative to use automation systems in the work of medical organizations. In this study we proposed the experience of integrated use of information technologies in the activities of a medical organization and the assessment of obtained medical and socio-economic effects. Materials and methods.We used economic methods of evaluating the use of medical information systems in the medical organization. Results. The evaluation of the use of medical information systems in the medical organization showed medical and socio-economic effects in the form of an opportunity for employees to make optimal use of working hours, using unified directories developed by templates, automatically filling in model medical protocols; obtain statistical information on the number of provided services; a comprehensive approach to the write-off of consumable medical supplies; create standard documents with minimal time; prepare statements, conclusions, form a record in the outpatient card and, if necessary, an electronic prescription in the pharmacy. The duration of the doctor's appointment decreased by 50 % (from 30 minutes to 15-20 minutes), which made it possible to increase the number of served patients. Conclusion. The use of medical information systems ensures the medical organization and application of patients with the necessary social (in the form of ensuring the accessibility of medical services to more patients), medical (achieving high efficiency of medical services) and economic (cost reduction) effects.
The distribution of genetic variants associated with natural resistance to viral infections can vary among human ethnic groups due to evolutionary factors, defining the different epidemiologic background of world populations. The polymorphisms, defining the natural resistance to HIV-infection and the rate of progression up to AIDS, are very important since epidemic is still on rise. We have studied the distribution of allele and genotype frequencies of CCR5delta32 mutation in major populations inhabiting Chelyabinsk region of the Russian Federation. Genetic survey included the population of 509 potential blood marrow donors: Russians (N = 300), Bashkirs (N = 118) and Tatars (N = 91). The genotyping assay was performed using real-time polymerase chain reaction (real-time PCR). The genotypes were defined by melting curve analysis. The CCR5delta32 allele and CCR5delta32/delta32 genotype are presented in population of Russians in Chelyabinsk region with the frequencies of F = 10.83% and P = 1.67, for the CCR5delta32 allele and its homozygosity, respectively. In populations of Bashkirs and Tatars CCR5delta32 allele and CCR5delta32/delta32 genotype are presented at lower frequencies of F = 6.36%/P = 0.85 and F = 7.14%/P = 1.10, respectively. These data are consistent with the theory of northern origin of the CCR5delta32 mutation.
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