Наукові праці. Кафедра медичної біології

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    Effects of Non-Allelic Interactions of O2 and SU2 Mutant Genes on Grain Biochemical Composition in Various Corn Inbreds
    (2023-10-31) Tymchuk, Dmytro; Sadovnychenko, Iurii; Tymchuk, Natalia; Pasiuga, Olga
    The use of combinations of non-allelic mutant genes of the maize endosperm structure creates opportunities for improving the quality of corn grain in comparison not only with forms of the common type but also with monogenic endospermic mutants. In this study, the effect of a combination of mutant genes O2 (Opaque-2) and SU2 (Sugary-2) according to the biochemical composition of the grain was studied. For the research, a series of inbreds - carriers of a combination of mutant genes O2SU2, inbreds - carriers of monogenic mutations O2 and SU2, as well as maize inbreds of the common type of two-year reproduction were used. In the experiments, the content of protein, starch, and oil and the main characteristics of their quality were studied. It was found that the inbred carriers of the O2SU2 combination are superior to the inbred carriers of monogenic mutations O2 and SU2 in terms of complex biochemical characteristics. In comparison with mutants O2 they were distinguished by an increased content of protein (by 12.3% on average), amylose in starch (by 38.9% on average), starch digestibility (by 24.4% on average), oil content (by 18.4% on average) and oleate content in oil (by 29.9% on average). In comparison with the carriers of SU2 mutation, they had a higher content of lysine and tryptophan in the total grain protein (on average, by 19.4% & 14.3%, respectively). The main characteristics of grain quality in carriers of a combination of mutant genes O2SU2 were characterized by quantitative variability, which can modify the effect of non–allelic interaction of mutant genes O2 and SU2. The obtained results indicate the effectiveness of using non-allelic interactions between the O2 and SU2 mutant genes to improve the quality of corn grain.
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    Single nucleotide polymorphism C994g of the cytochrome P450 gene possess pleiotropic eff ects in Bos taurus, L.
    (University of Szeged, 2022) Fedota, Olena; Puzik, Nina; Skrypkina, Inessa; Babalyan, Volodymyr; Mitiohlo, Larysa; Ruban, Serhii; Belyaev, Serhii; Borshch, Oleksandr; Borshch, Oleksandr
    The chronic consumption of mycotoxin-contaminated forage tends to the weight loss of young cattle, decreasing the reproductive success of adult animals, milk yield, and tolerance to high temperatures. The aim of this paper was to study the effects of the SNP C994G in the CYP3A28 gene on the productive and reproductive characteristics of dairy and beef breeds. Cows were measured by body weight dynamics, exterior, reproduction, milk production traits, bone mineral density, bulls were analyzed estimating their progeny traits. Dairy cows received dietary betaine supplement with the measurement of homocysteine levels. Molecular genetic was performed by PCR-RFLP method. The eff ects of SNP C994G were shown in relation to the udder size, the constitution and birth weight of Abredin-Angus cows, as well as the fat and protein content of Ukrainian Red-and-White Dairy cows milk. The higher sensitivity of the GG genotype to less homocysteine level after the addition of betaine was shown. Given the identified correspondence, pleiotropic effects of CYP3A28 gene can be concluded. A microscopic analysis of forage supported the findings in relation to greater effi ciency of the CC genotype under conditions of low mycotoxins contamination, to which CYP3A28 is selective.
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    Association of one-carbon metabolism-related genes and ichthyosis vulgaris manifestation in Eastern Ukraine
    (Nature Publishing Group, 2022-05) Fedota, Olena; Sadovnychenko, Iurii; Makukh, Halyna; Chorna, Lilia; Roshcheniuk, Larissa; Vorontsov, Vitalii; Ryzhko, Pavlo
    The study is devoted to analysis of the effects of one-carbon metabolism-related genes on the IV clinical manifestation in FLG mutation carriers.
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    Oleic Acid Glycerides Content in the Oils of Maize Endospermic Mutants and Its Dependence on Temperature During Ripening
    (2021) Tymchuk, Dmytro; Sadovnichenko, Iurii; Tymchuk, Nataliya; Potapenko, Halyna; Torianyk, Inna
    Identification of sources of increased content of oleic acid glycerides (oleates) and determination of the nature of its variability are prerequisites for improving oil quality. The purpose of this study was to establish the variability of the content of oleic acid glycerides (oleates) in maize oil depending on the genotype and ripening temperature. The experiments were carried out on a series of common maize inbreds and inbred-carriers of the su1, ae, and su2 mutations, which were grown for three years. The fatty acid composition of the oil was analysed by the Peisker gas chromatographic method. Genotype–environment interactions were assessed using the Eberhard–Russell algorithm. It was found that the carriers of the su1 and su2 mutations had the highest oleate content. The oleate content of maize oil generally increased with increasing ripening temperature. Unrelated inbreds based on one mutation significantly differed in the genetically determined level of oleate and showed non-identical responses to the ripening temperature. In inbreds of the first type, the content of oleates changed significantly with temperature fluctuation, while inbreds of the second type provided a fairly stable level of the trait under these conditions.
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    The Effects of Polymorphisms in One-carbon Metabolism Genes on Manifestation of Ichthyosis Vulgaris
    (2021) Fedota, Olena; Sadovnychenko, Y.; Chorna, L.; Roshchenyuk, Larysa; Vorontsov, Vitalii; Ryzhko, Pavlo; Haiboniuk, I.; Belyaev, S.; Belozorov, I.; Makukh, H.
    BACKGROUND: Ichthyosis vulgaris is the most common type of Mendelian disorders of cornification, caused by loss-of-function mutations in the gene encoding epidermal protein filaggrin (FLG), namely R501X and 2282del4. FLG 2282del4 mutation in heterozygotes is incompletely penetrant. Polymorphisms in one-carbon metabolism genes could be associated with clinical manifestation of ichthyosis vulgaris. AIM: The purpose of the present study was to analyze the effects of MTHFR, MTR, and MTRR polymorphisms in patients with ichthyosis vulgaris. METHODS: Thirty-one patients with ichthyosis vulgaris, 7 their FLG heterozygous relatives without symptoms of disorder, and 150 healthy controls were enrolled in the study. FLG null mutations — R501X (rs61816761) and 2282del4 (rs558269137) — and one-carbon metabolism gene polymorphisms — MTHFR C677T (rs1801133), MTHFR A1298C (rs1801131), MTR A2756G (rs1805087), and MTRR A66G (rs1801394) — were analyzed by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. RESULTS: Among patients with ichthyosis, heterozygous for FLG 2282 del4 mutation, the distributions of genotypes for folate metabolism genes were: MTHFR C677T CC:CT:TT —29.4%:70.6%:0.0%; MTHFR A1298C AA:AC:CC — 52.9%:47.1%:0.0%; MTR A2756G AA:AG:GG — 70.3%:23.5%:5.9%; and MTRR A66G AA:AG:GG — 23.4%:52.9%:23.5%. The frequencies of MTR 2756AA and MTRR 66GG genotypes were 1.4–1.6 times higher in affected individuals heterozygous for 2282del4 than in patients with other FLG genotypes. In affected 2282del4 heterozygotes, the frequency of MTR 2756AA genotype was 1.6 times greater than in healthy controls (p < 0.01). The strongest association was found between MTHFR 677CT/MTHFR 1298AA/MTR 2756AA/MTRR 66AG genotype and ichthyosis — odds ratio (OR)=11.23 (95% confidence interval 2.51−50.21, p = 0.002). CONCLUSIONS: Various genotypes of one-carbon metabolism genes increase the risk of ichthyosis in heterozygotes for the FLG 2282del4 mutation (OR 2.80–11.23). The most probable predisposing genotype is 677CT/1298AA/2756AA+AG/66AG
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    Genetic Study of X-Linked Recessive Ichthyosis in Eastern Ukraine
    (2021) Fedota, О.; Roshcheniuk, L.; Sadovnychenko, I.; Gontar, J.; Merenkova, I.; Vorontsov, V.; Ryzhko, P.
    X-linked recessive ichthyosis (OMIM 308100) is a form of ichthyosis caused by abnormal keratinization and can result in disability, social maladaptation, and decreased quality of life for patients and their families. In most cases the disease is caused by a complete or partial deletion of the steroid sulfatase (STS) gene. This study estimated the prevalence of X-linked recessive ichthyosis, the inbreeding coefficient (or fixation index) FST, and the selection coefficient in individuals of eastern Ukraine (namely, Kharkiv oblast). The genealogical method was used to assess the genetic structure of families with a history of this disease. Fluorescent in situ hybridization (FISH) was carried out to detect the deletion of the STS gene in patients and their relatives. The prevalence of the disease in eastern Ukraine was 1.5 × 10–4 males, it ranged from 4.9 × 10–5 to 4.9 × 10–4 males in the districts, and from 2.2 × 10–4 males in the town of Krasnograd to 3.7 × 10–3 males in a village of Balakliia district. The burden of X-linked recessive ichthyosis was found to be positively correlated with the inbreeding coefficient FST in all the studied districts (r = 0.976). Over the past 10 years, the inbreeding coefficient FST increased 1.8 times and the prevalence of X-linked recessive ichthyosis increased 1.4–4.3 times in most districts of the region.
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    Effect of Surface Modification of Sputtered Ta2O5 Magnetron Ceramic Coatings on the Functional Properties of Antigen-Presenting Cells In Vitro Tests
    (2020) Yakovin, S.; Dudin, S.; Zykova, A.; Safonov, V.; Goltsev, A.; Dubrava, T.; Rassokha, I.
    The effect of surface treatment of Ta2O5 nanostructured coatings by argon ions and electron beam on the functional potential of antigen-presenting cells of the monocyte-phagocytic system has been studied. The adhesive potential, indicators of phagocytic and metabolic activity of the studied cells depending on the surface properties of magnetron sputtered tantalum pentoxide coatings were analyzed. Electron irradiation process led to the stimulation of adhesive potential, phagocytic and metabolic activity of cells on the Ta2O5 coated surfaces. On the contrary, the surface treatment by argon ions significantly reduced the functional activity of the studied cells
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    Imbalance of pro- and anti-inflammatory cytokines in community-acquired pneumonia of children with different levels of physical development.
    (2017) Borodina, O.; Frolova, T.
    Physical development (PD) of children and adolescents reflects the pattern of body growth processes, its morphological and functional state for each age period. Despite the large number of studies in this field, the problem remains unclear concerning the peculiarities of the immune reaction to acute inflammatory process of children with different levels of PD
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    Awareness of young maldivians (medical students) about β-thalassemia
    (2019) Kalian, V.; Nauma, H.; Faziha, M.
    Studies show that Maldives has one of the world’s highest thalassemia carrier rate (F.Waleed et al., 2016). Professor Calogero Vullo (Italy) in 1992 estimated that 1 out of every 5 to 6 person in Maldives is a carrier for β-thalassemia. Approximately 28 new β -thal cases are recorded annually. Poor awareness and not fully knowing the devastating consequences of the condition are main reasons for this high number of new cases (F. Waleed et al., 2016). The main primary prevention strategy is awareness with premarital screening and genetic counseling. However, the solution of this problem has ethical aspect. Gender, education level, age, being single, income level (Al-Farsi et al., 2014) and fear of stigmatization (Fahad et al., 2012) contribute to unwillingness to participate in premarital screening. Besides, religion plays a vital role in all decisions. In our opinion, medical education must help to raise people’s awareness. The purpose of this study was to assess the initial degree of awareness of young Maldivians (medical students about β -thalassemia disease and their personal attitude to solution of the problem existing in the country. The survey has been undertaken among Maldivian students that study in Kharkiv National Medical University (KNMU), Ukraine. Twenty-three students aged 19 to 29 years old participated in the survey (18 females and 5 males). The anonymous questionnaire had four groups of questions about: (i) personal data (place of living in Maldives, gender, age, education level, marriage status); (ii) if a respondent has been informed about β-thalassemia situation in Maldives and disease consequences; (iii) young Maldivians' awareness about premarital screening and The Thalassemia prevention law of Maldives; (iv) students' attitude to amniocentesis in Maldives and possibility to terminate pregnancy legally. According to obtained results, 48% of Maldivian students represent Male’ while 52% are from different atolls. Assessment of the degree of young Maldivians awareness about β-thalassemia disease shows that 30% of students do not know that Maldives has one of the world’s highest β-thal carrier rate and they are not informed about the disease devastating consequences. 100% of all respondents know where they can do premarital screening for carrier status. 35% of KNMU Maldivian students have undergone premarital screening. The main reasons why students did not undertake premarital screening are: 1) being single; 2) lack of time; 3) difficulty to access the services; 4) lack of knowledge about thalassemia. Majority of students (78%) have heard about The Thalassemia prevention law of Maldives, but only 48% understand meaning of this law. The study of young Maldivians’ personal attitude to solution of the problem existing in the country shows that 78% of students believe that amniocentesis should be allowed in Maldives, 17% of them think that it should not be allowed and 5% hesitate. To sum up, the study demonstrates that more than 50% of young KNMU Maldivians are not ready to accept some possible medical intervention to prevent birth of β-thal children. The main reasons of that are religion and culture. Our task for future is to conduct activities to raise awareness of young Maldivians who study at KNMU about β-thalassemia, because being doctors they may contribute to the solution of the tremendous problem posed by thalassemia in the country.