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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

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 Aegi lops 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.

Сongenital adrenal hyperplasia (CAH) – is one of the versions of inherited enzymopathy. If it was dedected too late, that can lead not only to some fatal consequences, but to patient’s death as well. Neonatal screening of CAH allows to detect the desease promtly and start an immediate therapy in order to prevent difficult complications of the desease and patient’s disablement.Aim:Analisys of the frequency of CAH case rate within children in the Republic of Tatarstan (RT) after neonatal screening and also prevalence rate of different clinic forms of empairments and types of gene CYP21A2’s mutations.Methods:Reports of the results of CAH screening by medicogenetic service in RT were analysed. Information about children born, detected cases of CAH was taken from statistic form № 12 “Information on the number of diseases, detected within patient residing in the service area of medical organization, Rosstat” during 2006–2018yrs. Materials for analysis of health clinic of children’s CAH were case histories of patient, observed in endocrinology department of GAUZ “Republican children clinic hospital” Ministry of Health of The Republic of Tatarstan (DRKB MZ RT). Molecular-genetic researches were conducted on the basis of Federal state budgetary institution “National medical center for endocrinology” of the Russian ministry of Health. (FGBU “NMIC of endocrinology) of The Russian ministry of Health) with the support of “Alfa Endo” program CAF charity foundation.Results:During 2007–2017 yrs. according to the results of neonatal screening 32 children with CAH were detected. The case rate ranged from 1:5054 to 1:56 598 newborn. The maximum of the disease case in RT was detected in 2016 (11 children). With 24 children molecular-genetic analysis was conducted, as a result 24 gene CYP21A2’s mutations were detected in homo- and heterozygotic state. The most widely spread mutation turned to be 12spl, which was found in 45,8% of cases.Conclusion:Conducted analysis confirms the necessity of the further study of the CAH case rate distinctions in different areas and cities of RT, and also upgrade of the organization and performance of the neonatal screening.

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.

The histological subclassification of gliomas is increasingly assisted by the underlying molecular genetics which has major importance in guiding clinical management of the disease. However, the assessment of several molecular events for improving clinical care remains a challenge. Herein, we report on comparative genomic hybridization (CGH) and immunohistochemical (IHC) assessment of EGFR, PTEN, p53, and MIB-1 expression in 13 oligodendrogliomas (10 WHO grade II, 3 WHO grade III), one oligoastrocytoma (WHO grade III) and 23 high-grade astrocytomas (3 WHO grade III, 20 glioblastoma multiforme). The most frequent imbalances in oligodendroglial tumors including the oligoastrocytic case were, in decreasing order of frequency, +7q, -1p, and -4q and in astrocytomas +7q, -10q, +7p, -9p, -10p, +20q, and +20p. Some individual imbalances were associated with increasing numbers of chromosomal changes, that were +7q in both oligodendrogliomas and astrocytomas, and -9p, -10q, +20p, and +20q in astrocytomas. The markers p53 and MIB-1 were significantly higher expressed in astrocytomas than in oligodendrogliomas and expression levels of p53 and EGFR were inversely associated within the astrocytic group. In addition, p53 overexpression correlated positively with +7q and negatively with -1p in the oligodendroglial group whereas EGFR overexpression correlated positively with -1p in the oligodendroglial and positively with +7p and -10p in the astrocytic group. Short overall survival was significantly associated with +7p and -10q in astrocytomas. Collectively, these results contribute to the increasing clinical relevance of assessing tumor biological markers in gliomas.