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Genetic screening was carried out for Masalli area of Azerbaijan Republic for 23 school students and found different degree of enzyme deficiency for G6PD enzyme (activity between 0-60%). Enzyme preparations were made according with WHO requirements of erythrocytes from identified students with enzymatic activity deficiency, and were identified biochemically specific for three classes out of existing five: 13 students - the 2nd class, 6 students - the 3rd class, and 4 students - the 4th class. Complying to the 2nd class requirements, 24 family members of the school student F.N. (index patient) from Bedalan town were screened for G6PD enzyme deficiency, and 6 of them showed acute enzyme activity deficit (lower than 10%). DNA molecular analysis, isolated from blood of the F.N. index patient, was classified as the 2nd class of G6PD enzyme deficiency, and showed the substitution of Guanine nucleotide with Adenine in position 1178. As a result of the mutation in protein in the position 393, substitution of amino acids Arginine with Histidine [G6PD, 1178 (G-A) Arg393His] takes place. [ABSTRACT FROM AUTHOR]

Multivalvulidan myxosporeans (Multivalvulida) of the genera Unicapsula Davis, 1924 and Kudoa Meglitsch, 1947 are mostly causative agents of latent and imperceptible infection in marine fishes. However, they are sometimes incriminated in causing post-mortem myoliquefaction or unsightly cyst formation in commercial fish. Despite the great commercial impacts of multivalvulidan infection, the biodiversity, host range and epidemiology of multivalvulidan species remain to be explored further, including infection of alternative annelid hosts. Therefore, this study aimed to identify multivalvulidan species and their host and/or distribution records in commercial fishes in China. Multivalvulidan infection was detected in ten commercial fish species of seven families from the South and East China Seas (Northwest Pacific Ocean) and the Eastern Central Atlantic Ocean (an imported Dagetichthys lusitanicus [de Brito Capello]). Based on morphological and molecular-genetic analyses of their small and large subunit of ribosomal RNA genes, five new host and/or geographical distribution records for five fish species are presented, and three new species in five fish species are described, namely Kudoa neoscomberomori sp. n. in Scomberomorus commerson (Lacépède); Kudoa pilosa sp. n. in Helicolenus hilgendorfi (Döderlein) (type host) and Sebastiscus tertius (Barsukov et Chen); and Kudoa tumidisporica sp. n. in Photopectoralis bindus (Valenciennes) (type host) and Nuchequula nuchalis (Temminck et Schlegel). This study provides new data on multivalvulidan diversity in the ocean ecosystem.

Objective of the study was to assess the effectiveness of PCR screening of Vibrio cholerae genetic determinants in samples from surface water reservoirs for optimization of the cholera microbiological monitoring system.Materials and methods. The study was carried out as a part of the vibrioflora monitoring in surface water bodies in Irkutsk city. The study design included: 1) PCR screening of V. cholerae genetic determinants in nutrient-enriched (1 % peptone water) samples from surface water reservoirs during the monitoring period (824 samples); 2) studying of the V. cholerae DNA accumulation dynamics applying PCR assay of the samples from surface water reservoirs during cultivation on the enriched media (16 samples in dynamics); 3) experimental study of the detected V. cholerae concentrations in samples from surface water reservoirs. Species-specifc (hlyA, toxR) and serogroup-specifc (wbeT, wbfR) V. cholerae determinants were indicated in PCR with hybridization-fluorescent and electrophoretic detection.Results and discussion. At the frst stage it was found that the proportion of the positive samples through PCR screening (33.9 %) exceeded the percentage of the positive samples in bacteriological examination (19.3 %) (t=6.6; p

The article addresses the importance and basic preconditions for the forming a new direction of forensic activity in the system of forensic institutions of the Russian Ministry of Justice a new direction of forensic activity - molecular-genetic analysis of the objects of biological origin. The authors present the advantages of DNA analysis - one of the most modern and efficient methods in investigating criminal cases. The article also demonstrates the potential of different methods of DNA-analysis for forensic investigations. The history of forensic DNA-analysis development in Russia and its features when examining the human, animal, and plant biomaterials are briefly discussed. The authors propose the definitions for the molecular-genetic examinations’ object and subject, formulate the model tasks, and suggest a list of sample questions for this study.

Background. Identification of effective genes for disease resistance in resistant plant samples is the most important step toward recommending them for breeding. There are three main methods for such identification: hybridological analysis, phytopathological test, and DNA marking. The method of PCR markers is widely used in Russia to identify resistance genes in wheat relatives, including the genus Aegilops L. for resistance to leaf rust. From a theoretical viewpoint, the presence of a certain amplification fragment can hardly be interpreted as a definite proof of the presence of a resistance gene: during the species evolution, recombinations and mutations could occur, resulting in disturbance of the fragment’s presence and phenotypic expression of its connection with resistance. The purpose of this work was a comparison between molecular-genetic and phytopathological methods to identify leaf rust resistance genes Lr9 and Lr41 in three Aegilops species.Materials and methods. We identified leaf rust resistance genes Lr9 and Lr41 in forty Aegilops accessions using PCR with J13 and GDM35 primers, respectively. In the phytopathological test, the seedlings were infected with the pathogen population (avirulent to Lr9 and Lr41 genes) and the fungus clones virulent to the wheat line with the Lr9 gene.Results and conclusions. According to the data of molecular marking, the Lr41 gene was present in twelve Ae. tauschii Coss. accessions; Lr9 in four Ae. umbellulata Zhuk. accessions and four of Ae. biuncialis Vis. All accessions of Ae. tauschii, two of Ae. umbellulata, and three of Ae. biuncialis, possessing effective resistance genes according to the molecular testing, were susceptible to the pathogen population. For three Ae. umbellulata accessions resistant to the population, where DNA marking failed to identify an Lr9 gene, the presence of this gene was shown by a phytopathological test. Thus, there were significant differences in the postulation of effective Lr9 and Lr41 leaf rust resistance genes in Aegilops accessions after a phytopatological test and the use of DNA markers.

The review presents the geographical distribution, botanical description, chemical composition, information about the use in medicine and the study of the pharmacological activity of the representatives of the genus Genista L. It is shown that the plants of the genus are widely distributed on the territory of the Russian Federation, however, it is rather difficult to systematize the plants of the genus of interest on the basis of morphological characters, since they have an extensive habitat and, accordingly, the morphological characteristics of one species vary greatly within the range. Plants of the genus have a rich composition of biologically active substances. At the same time, an analysis of literature data on products of the secondary metabolism of species of the genus Genista revealed an uneven degree of their knowledge. Infusions and decoctions from the grass of Genista are used in folk medicine as a diuretic, choleretic and laxative, and an analysis of literary sources showed that plants of the genus are promising in various pathologies. The authors of the review showed the need for a complex morphological, anatomical, phytochemical, and molecular genetic study of plants of the genus Genista to clarify the taxonomy and introduction into medical practice.

The case report describes a rare case of hereditary diffuse gastric cancer, associated with a CDH1 gene mutation and reported in the Russian population for the fist time. In february 2013, after a medical genetic counseling in the laboratory of clinical oncogenetics of the Institute of Clinical Oncology of the N.N. Blokhin National Medical Research Center of Oncology of the Ministry of Health of Russia the 28 years old patient was applied to due to a family history of gastric cancer. Based on the results of the molecular genetic study, thе mutation in the CDH1 gene was found, which determines the risk of diffuse gastric cancer during life beyond 80 %. Histological examination of the material of the gastric mucosa biopsy performed during the esophagogastroduodenoscopy revealed single foci of the ring-cell cancer in the intrinsic plate of the gastric mucosa. In the department of abdominal oncology, the Research Institute of Clinical Oncology of the N.N. Blokhin National Medical Research Center of Oncology of the Ministry of Health of Russia a splash-preserving gastrectomy for Roux was performed with the formation of a small intestine tank, lymphodissection D2.

Results of medico-genetic examination of 304 married couples with infertility (608 individuals) are presented in article. Frequency of genetic abnormalities and infertility structure are revealed. Comparative analysis between 2 groups of couples with male as well as combined infertility is performed. The groups were formed according the results of infertility treatment using methods of ART. The factors having had statistically significant impact on fertility were revealed.

Traditional division of the subfamily Lixinae into two or three tribes by Ter-Minassian and Alonso-Zarasaga and Lyal is not supported after moleculargenetic study using Ef-1a (elongation factor 1-alpha) of nuclear DNA. It is established that the traditional system of Lixinae is actually system of taxa of life forms with grouping of taxa by place localization of larval stage. The phylogenetic tree obtained on the basis of differences in DNA sequence analysis of Ef-1a gene by the methods of minimum evolution and maximum likelihood fully reflects the natural distribution of taxa by trophic preferences with clasters including taxa of different traditional tribes of Lixinae.

Laboratory diagnostics of plague was carried out in compliance with valid operational guidelines and regulations. But its peculiarity consisted in the performance of diagnostic investigations secondary to antimicrobial therapy with application of preparations characterized by the expressed activity towards gram-negative microorganisms, including the agent of plague (ceftriaxone, ciprolet, and amikacin). The studies revealed that under antibiotic treatment during the early phase of infection the most effective method for the laboratory plague diagnostics was PCR. Based on the results of the assay it was possible to establish not only provisional, but also the final diagnosis in a patient. Obtained was genetic characteristics of the strains isolated from the patient and the marmot, withdrawn at the patient’s place, using techniques of molecular-genetic analysis, in particular PCR, multilocus VNTR, and multilocus and genome-wide sequencing. Thereupon the strains were attributed to antique biovar of the main subspecies of plague agent. In addition, close relation to Y. pestis of the main subspecies isolated in the same focus in 2012 and to the strains from Mongolian Altai and Tuvinian mountain focus was determined based on phylogenetic analysis of the isolates.

Mucoviscidosis is a monogenic autosomal recessive caused by the CFTR gene mutations and characterized by pronounced genetic heterogeneity and clinical polymorphism, which emphasizes the need in comprehensive diagnosis and molecular-genetic verification of the final diagnosis. Quality and duration of a mucoviscidosis patient depend on early diagnosis and timely adequate therapy. The article presents mucoviscidosis diagnostic methods and protocols and capabilities of the modern molecular-genetic pathological diagnosis; a review of DNA diagnostic sets has been performed. As sets of some of the genes typical to the Russian population have not been registered in the Russian Federation, mutations in 20% of the patients cannot be specified. In order to solve this problem it is necessary to develop DNA diagnostic sets specific for the Russian Federation, ensure genetic diagnosis of the disease, including sequencing methods at the expense of the federal budget, increase the amount of information and improve quality of teaching this discipline to students of medial universities and at postgraduate courses for appropriate specialists.

The mycobiota of deep-sea benthic communities on the Piip submarine volcano, Bering Sea, Russia, has been studied for the first time. Filamentous fungi were isolated from deep-sea bottom sediments, sponges, and holothurians using traditional culture-based methods. The fungi were identified using a combination of methods based on morphology of reproductive structures, cultural colony characteristics, and the ITS1-5.8S-ITS2and partial β-tubulin (BenA) gene sequencing. A total of 11 species of filamentous fungi from three Ascomycota genera (Aspergillus , Penicillium , and Cladosporium) were recorded from deep-sea benthic communities that formed on the Piip submarine volcano. Levels of the major fatty acids in strains of these fungi were determined. The taxa found are typical of both deep-sea habitats and deep-sea volcanoes. However, the absence of some genera (Acremonium, Aureobasidium, Alternaria ...) indicates the weakening of the influence of the volcano on the slopes and base. [ABSTRACT FROM AUTHOR]

In order to evaluate the epidemiology of influenza A and its surface antigens (haemagglutinin [HA] and neuraminidase [NA]) for molecular epidemiology and evolution analysis during winter 2012–2013 in Beijing, China, we worked within the framework of the Chinese National Influenza Center and collected nasal swabs of patients presenting with influenza-like illness. We found that both A(H1N1)pdm09 (46.8%) and H3N2 (53.2%) viruses were the predominant strains during the 2012–2013 influenza epidemic. The peak phase started at the second week of 2013 and lasted about 1 month. We obtained HA and NA sequences of viruses from 44 patients by using Sanger sequencing. None of the strains had the oseltamivir resistance site H274Y. Phylogenetic analysis of 29 A(H1N1)pdm09 viruses showed a genetic drift from the vaccine strain A/California/07/2009 with mutations (H155Q/R and L178I) at the antigenic sites Ca and Sa of HA; the strains were classified into genetic groups 6 and 7 because of the presence of D114N, S160G, S202T, and A214T mutations in HA. H3N2 viruses formed seasonal phylogenetic clusters representative for each season from 2000 to 2013; 15 of the 2012–2013 H3N2 strains were assigned to the A/Victoria/361/2011 genetic clade with mutations at the antigenic sites A, B and C of HA, including R158K/G, N161S, Q172H, and N294K; the 2012–2013 strains with V239I, S61N, T64I, and A214S HA mutations were classified into subgroup 3C. The mutation of potential N-linked glycosylation residues at the antigenic sites of HA and around the enzymatic active center of NA may have increased viral pathogenicity by masking antigenic sites from immune recognition. Our data suggest that influenza vaccines are generally effective, but still provide suboptimal protection due to antigenic variation. This study increases the understanding of influenza A viruses in humans and is informative for future vaccine strain selection. [ABSTRACT FROM AUTHOR]

Abstract: In total 3566 blood sera samples were collected in the Russian Far East and Central and Western Siberia in 2009–2010. The presence of antibodies to influenza A/H1N1pdm, seasonal H1N1 and H3N2 influenza viruses in the sera was tested in the hemagglutination inhibition test. 29.5% of samples from the Far East were positive to pandemic influenza, this value for Central and Western Siberia is 2-fold lower (12.8% and 11%, respectively). Fifty-six influenza A/H1N1pdm viruses were isolated during 2009–2010 from samples collected in Central and Western Siberia and the Russian Far East. Molecular and genetic properties of 23 strains were studied. Nucleotide and amino-acid sequences of pandemic influenza virus strains were identical (99% identity or more) to reference strain A/California/04/2009. Sporadic substitutions in antigenic sites were detected but did not change antigenic characteristics of strains. [Copyright &y& Elsevier]

Gaucher disease (GD) is the most frequent lysosomal storage disease presenting in all populations. Mutations in the acid β-D-glucosidase gene (GBA) cause development of GD, resulting in a decrease or full loss of activity of this enzyme. We report here the results of the molecular-genetic analysis in 68 Russian GD patients from 65 families with the three types of this disease. The GD genotype has been completely elucidated in 58 patients and in all patients we have found at least one mutant allele (92.6%). Besides frequent mutations (p.N370S, c.1263_1317del (del55), p.L444P, p.R463C, Rec NciI) we have identified rare mutations p.R120W, p.R170C, p.R184W, p.G202R, Rec C (p.R120W; p.W184R; p.N188K; p.V191G; p.S196P; p.G202R; p.F213I), presenting in other populations of GD patients. The mutations p.P236T, p.L249Q, p.L288P, p.P319S, p.V352M, p.W381X, p.A384D identified in this study had not been described before. The GBA mutations identified in Russian patients have been compared with those found in patients of other European countries. Genotype-phenotype correlations in GD are discussed. [ABSTRACT FROM AUTHOR]