The aim of the work is to analyze the frequency of cytogenetic variants of Down syndrome among patients in Odesa and the region, as well as to identify combined karyotype anomalies. Materials and methods. Studies were conducted between 2013–2018 years in Odesa Specialized Medical Genetic Center. The experimental group was formed of patients with cytogenetically confirmed Down syndrome. Chromosomes were painted according to GTG method and identified according to ISCN 2013. Results. Among patients with Down syndrome, in 93.9 % of cases complete trisomy 21 was observed, the translocation form was in 3.7 %, and the mosaic form was in 2.4 %. Similar results were revealed in the analysis of populations belonging to different ethnic and racial groups. Complete trisomy 21 was accompanied by chromosome rearrangements of other chromosomes or additional modifications of chromosome 21. Changes in the heterochromatin in chromosome 9 were more frequently observed. In total, 5.5 % of examined karyotypes were found with additional heterochromatin in both arms of chromosome 1 and in the long arm of chromosome 21. An increase in the size of satellites in chromosomes 14, 15 and more often 21, as well as the appearance of additional satellites in chromosome 2 represented 3.6 % of the total examined karyotypes. A deletion on chromosome 6 involved in translocation with chromosome 13 also was found. Translocation forms included Robertsonian translocations involving chromosomes 21 and 21, 14 and 21, as well as translocations involving chromosomes 21 and 21, 21 and 22. Patients with a mosaic form of the disease had two cell lines: with a normal karyotype 3 (15–67 % of the studied cells) and with complete trisomy 21 without additional chromosomal abnormalities (33–85 % of the studied cells). Conclusions. Among patients with cytogenetically confirmed diagnosis of Down syndrome, the ratio of the main variants was similar to many populations studied. At the same time, additional changes in the karyotype were identified which can either be a variant of the norm or aggravate the course of the disease. This requires further studies of the disease course in such patients.
Basidial macromycetes may be a material for the development of new biotechnologies, medical preparations, components of dietary nutrition. Therefore, it is necessary for the highest level of quality for maintenance and identification of mushroom strains in the collection. An important parameter, in this case, is a stability of isolated and described collection strains of basidiomycetes. Stability is one of the key issues of long-term preservation of pure culture collections. For the collection of medicinal basidiomycetes of ONU I.I. Mechnikov, which preserves by the method of periodic reseeding of colonies the strain stability had not been studied yet. The goal of this research is to study the stability of this collection by a growth rate of mushroom colonies and electrophoretic spectra of carboxylesterases after different times of storage of cultures on malt agar. In this research the strains of three age categories (1, 2 and 3 years) of storage on malt-agar medium at temperature 4 ° С for were tested. The radial growth rate of their vegetative mycelium and the spectra of multiple molecular forms of carboxylesterases by the method of vertical electrophoresis in 7% of polyacrylamide gel were investigated. It was established that the stability of the radial growth rate of A. auricula-judae, F. velutipes, G. lucidum the vegetative mycelium after different storage periods is high according to the values of variation coefficients. At the same time, the expression of molecular forms of carboxylesterase showed sufficient variability. Partially conservative molecular forms were detected in some age groups of strains, as well as for individual strains. Thus the growth rate of colonies is a stable indicator and the molecular forms of carboxylesterases of different ages strains are variable.
Hepatitis C is a viral liver disease caused by HCV. Worldwide, 71 million people suffer from chronic hepatitis C infection. There is a discussion in the literature sources about the association of blood groups of the AB0 system with viral hepatitis; however, the data obtained in different populations of high rank is controversial. The aim of the study was to investigate possible associations of blood groups of the AB0 system with hepatitis C in the Odessa region. The case-control study was conducted in 2017–2019 at the blood transfusion station of SE «Odessa Railway». The control group consisted of 18 963 healthy individuals, the experimental group consisted of 520 people from the donors examined, in which blood antibodies to HCV were detected. Determination of blood groups was performed according to the standard method, serological studies – ELISA on ELISA analyzer III. The analysis using the χ2 criterion showed that the frequencies of blood groups in the control and experimental groups differed significantly (p ≤ 0.005). To determine the effects of each blood group, relative risk frequencies for each blood group were calculated. People with the AB blood group had the lowest risk of infection (OR = 0.60), with a slightly weaker negative association observed among people with blood group 0 (OR = 0.86). Individuals with blood groups A and B had a positive association; the rate of infection of persons with blood group B was the highest (OR = 1.23). The findings complement a diverse picture of such associations in different populations. The variation in associations in different populations may be due to both statistical causes and genetic diversity of human and HCV populations, as well as the interaction between human immunity-related genetic systems. The existence of associations between the AB0 system and susceptibility/immunity to hepatitis C may be an additional indicator of the assessment of risk groups, which is functional for certain populations in certain sanitary and epidemiological conditions.
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