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Coronavirus disease 2019 (COVID-19), first identified in late 2019 in Wuhan City, Hubei Province, China, remains a pressing public health challenge of the twenty-first century with significant morbidity and mortality despite the implementation of a vaccine campaign. Of particular interest are results of research on the role of genetic factors in the course of COVID-19. Such data indicate the probable existence of a hereditary predisposition of individuals to a severe and complicated course of the coronavirus disease. The results of a number of studies indicate the involvement of polymorphic variants I/D of the ACE1 gene in the particular course of the corona virus disease. The purposes of this work were to study the peculiarities of the distribution of genotypes according to the rs4646994 polymorphism of the ACE1 gene and to assess the association of this polymorphism with the severity of the course of the coronavirus disease and the risk of developing pathological changes in the lungs during the coronavirus disease in a cohort of children who suffered from COVID-19. For this purpose, in the examined group of 244 children with laboratory-confirmed COVID-19, genotyping was carried out according to the rs4646994 polymorphism of the ACE1 gene using melting curve analysis of PCR products, the detection of which occurs due to the fluorescence of the intercalating dye EvaGreen. According to the results of the study, an association was established between homo- and heterozygous carriers of the I allele with a severe course of the disease and, in particular, with lung injury. The obtained data can serve as a basis for the use of the I/D polymorphism of the ACE1 gene as a genetic marker for predicting the course of the disease for COVID-19 and become important information for the development of personalized therapy in children. [ABSTRACT FROM AUTHOR]

The aim of the study was to determine an association of the UGT1A1 (rs8175347), MTHFR (rs1801133), GSTP1 (rs1695), and ITPA (rs1127354) polymorphic variants with response to platinum-based chemotherapy in patients with bladder cancer. The study group consisted of 60 patients who were treated in the National Cancer Institute. The population control groups were formed from conditionally healthy adults from different regions of Ukraine. The commercial DNA extraction kits were used to isolate genomic DNA from the blood samples of patients and the control group. Genotyping of the MTHFR, GSTP1, and ITPA alleles was carried out using PCR followed by RFLP analysis. The determination of UGT1A1 allelic variants was conducted by a method of fragment analysis of fluorescently labeled PCR products using an ALF-express II automatic laser analyzer. No significant difference was detected in the distribution of allele and genotype frequencies of the UGT1A1, MTHFR, GSTP1, and ITPA gene polymorphisms between the population sample and studied group of patients with bladder cancer. In addition, no statistically significant difference was detected in the distribution of allele and genotype frequencies for the polymorphic loci of the UGT1A1, MTHFR, and ITPA genes in codominant, dominant, and recessive models between the groups of patients with bladder cancer who had a positive response to chemotherapy and those who had no response to the therapy. It was demonstrated that the frequency of the GSTP1 gene 313G allele (0.40) was statistically significantly higher in the group of patients who responded to chemotherapy than in the group of patients who did not respond to the treatment (0.22). It was established that carriers of the GSTP1 gene 313G allele (AG and GG genotypes) have a higher probability of a positive response to chemotherapy than individuals with the AA genotype (OR = 3.05; CI 95%: 1.053–8.838). It was demonstrated that the GSTP1 gene A313G polymorphism (rs1695) is associated with a response to chemotherapy with platinum-based drugs, including cisplatin. The presence of the 313G allele in the patient genotype can indicate a better sensitivity of the tumor to platinum-based drugs. [ABSTRACT FROM AUTHOR]

The paper studies quasilinear interpolation by minimal splines constructed on nonuniform grids with multiple nodes. Asymptotic representations for normalized splines are obtained. The sharpness of biorthogonal approximation and the order of accuracy of quasilinear interpolation with respect to the grid stepsize are established. Results of numerical experiments on approximating some test functions, which demonstrate the effect of choosing a generating vector function in constructing the corresponding minimal spline, are presented. [ABSTRACT FROM AUTHOR]

The coronavirus disease (COVID-19), which is caused by a severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), was for the first time detected in December 2019. At the beginning of the pandemic, it was believed that children are less susceptible to COVID-19 compared to adults, but further studies demonstrated that children are also susceptible to infection with the SARS-CoV-2 virus. In recent years, appeared studies about the role of genetic factors in the course of COVID-19. This fact suggests a possible existence of hereditary predisposition of individuals to infection with the SARS-CoV-2 virus. Recently, data was obtained that certain genetic polymorphisms (particularly, different genotypes for the polymorphic variant rs12979860 of the IFNL gene) can act as predictors of the severe course of respiratory infections in children (particularly, COVID-19). The aim of this work was to study the peculiarities of the genotype distribution for the IFNL gene rs12979860 polymorphism in a cohort of children who suffered from COVID-19 as well as to estimate the association of this polymorphism with a risk of infection with the SARS-CoV-2 virus, the development of pneumonia during the coronavirus disease, and the course of this disease among children with recurrent respiratory infections (RRI). For this purpose, genotyping for the IFNL gene rs12979860 locus polymorphism was carried out in the studied group of 70 children who had a laboratory-confirmed COVID-19. According to the results of the study, it was established that the C allele was more common in children with RRI as compared with those with episodic viral infections (p < 0.05, OR 3.2; CI 1.52–6.71); therefore, this variant can be considered as a risk allele for more frequent viral infections. In addition, the C allele predominated in the subgroup of children with pneumonia (p < 0.05, OR 2.36; CI 1.19–4.68), indicating that the C allele can be considered a risk allele for a more severe course of COVID-19 due to pneumonia. The results obtained suggest that the C allele can act as a predictive marker of the risk of developing pneumonia in children with COVID-19. In addition, the carriage of the C allele is associated with cases of RRI among children. [ABSTRACT FROM AUTHOR]

Coronavirus disease (COVID-19) is an acute infectious disease of the respiratory tract caused by a new SARS-CoV-2 coronavirus. A global vaccination program against SARS-CoV-2 continues, and the incidence of COVID-19 worldwide is significantly decreasing. However, among millions of those who survived COVID-19, numerous groups will need assistance due to increased clinical consequences after COVID-19. Currently, there is a need to search for molecular biomarkers for monitoring the onset and progression of post-COVID syndrome. For this purpose, the relative average length of chromosome regions was studied in the groups of women of reproductive age: in the group of patients (n = 64) recovered from COVID-19 and in the control group (n = 42) of women of the same age. The analysis was carried out using a method of multiplex monochrome quantitative real-time PCR on DNA samples isolated from the peripheral blood leukocytes. According to the results of the study, it was established that the relative average length of chromosomes in the peripheral blood leukocytes was statistically significantly lower in the group of patients with COVID-19 than in the control group (p < 0.05). The results obtained allow one to state that the observed shortening of the relative average length of telomeres in the group of patients that recovered from COVID-19 can indicate that SARS-CoV-2 infection can directly cause the erosion of telomeres in the blood cells, particularly, in leukocytes. Thus, the determination of the relative average length of telomeres can be an informative prognostic marker for estimating the risk of the severity of COVID-19 disease and the development of post-COVID syndrome. [ABSTRACT FROM AUTHOR]

The elucidation of molecular genetic mechanisms in the development of rare inherited diseases is crucial in understanding the processes of pathogenesis, improving the diagnosis and treatment of patients. The aim of our study was to determine the nature of genetic defects in a patient who showed signs of dysfunction of sexual development in combination with neuromuscular pathology. The study included: clinical and genealogical examination, ultrasonographic examination, electroneuromyography, study of biochemical parameters in serum: hormones and enzymes, molecular cytogenetic study using the FISH method, whole exome sequencing of the patient's DNA analysis, bioinformatiсal analysis. The patient showed signs of primary (hypergonadotropic) hypogonadism and polyneuropathic changes in the lower extremities (axonal-demyelinating). It was found that these clinical characteristics of the patient's phenotype do not agree with any description of the clinical phenotype registered in the OMIM International Database. According to the results of molecular cytogenetic study in the patient's karyotype, an unbalanced translocation of the Yp11.3 region containing the SRY gene to the short arm region of the X chromosome Xp22.33 with the formation of a derivative chromosome X was detected. On another side, the results of whole exome sequencing of the patient's genomic DNA revealed the presence of a homozygous mutation chr5: 131165096 C>G (c.110 G>C, p.Arg37Pro) in the HINT1 gene. Thus, it can be concluded that the phenotype with signs of disorders of sex differentiation in combination with axonal neuropathy with myotonia is due to two independent pathogenetic factors - unbalanced translocation of the SRY gene sequence on the chromosome X during paternal spermatogenesis and inheritance of the HINT1 gene homozygous missense mutation (c.110 G>C, p.Arg37Pro). These results support the effectiveness of a combination of molecular cytogenetic research methods and the results of high-performance WES to elucidate the molecular mechanisms of pathogenesis in patients with rare clinical phenotypes. [ABSTRACT FROM AUTHOR]

An Erratum to this paper has been published: https://doi.org/10.3103/S0095452724060124 [ABSTRACT FROM AUTHOR]

Coronavirus disease (COVID-19), which was first recorded in China in December 2019, quickly spread to other countries and in a short period of time, the local outbreak escalated into a pandemic. There are significantly more cases of COVID-19 morbidity and mortality in European countries than in East Asia, where the disease was first detected. Such population differences are unique, especially for SARS-CoV-2 and are due to both socio-behavioral differences and features of the gene pool of the population of different countries. For infectious diseases, such as COVID-19, an important point is the genetic characteristics of individuals, which can determine its resistance or susceptibility to infection. Therefore, studies of the factors of hereditary predisposition to SARS-CoV-2 infection, as well as severity and mortality are extremely relevant. After genotyping among the healthy population of Ukraine and collecting relevant data from some European countries, we determined the correlation between morbidity, mortality from COVID-19 and the prevalence of genotype II (ACE1, I/D polymorphism) in the populations of Ukraine and several European countries. There was a negative correlation between the carrier of genotype II and susceptibility to SARS-CoV-2 infection per one million population (R = –0.53, p < 0.05), so individuals with genotype II can be considered more resistant to infection SARS-CoV-2. Further study of the role of allelic variants of the ACE1 gene in the development of severity and complications affected patients of COVID-19, are promising for identified of genetic markers for development of personalized therapy. [ABSTRACT FROM AUTHOR]

Proximal spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease caused by homozygous deletion in the seventh exon of the SMN1 gene. The aim of this work is to analyze the association of the allelic polymorphism of telomeric genes SMN1 and NAIP and the centromeric gene SMN2 of the 5q13 region with the clinical phenotype of SMA. It was shown that the homozygous genotype, which contains a telomeric deletion, covering both SMN1 and NAIP, is significantly more often observed in patients with the most severe type of SMA. Three or more copies of SMN2 are associated with a milder phenotype; the number of SMN2 copies affects the SMA phenotype more heavily than the length of the telomeric deletion. It was shown that one SMN2 copy is significantly more frequent than three or more copies of this gene in SMA-patients with homozygous deletion of SMN1 and NAIP. This fact may indicate the presence of a large deletion of all the three studied genes in SMA genotypes associated with the most severe type of SMA. It is noted that congenital SMA (type 0) is significantly less common in female patients, which may indicate the presence of SMA modifier genes on the X-chromosome. [ABSTRACT FROM AUTHOR]

Toll-like receptor 4 (encoded by TLR4 gene) has a variety of functions, including tissue homeostasis, regulation of cell death and survival via activation of signaling pathways which lead to interferon regulatory factor 3 (IRF-3) activation and type I interferon production. TLR4 may have a crucial role in pathogenesis of complex and infectious diseases. Functional polymorphism TLR4 +3725G/C substitution (rs11536889) leads to faster transcript degradation and receptors number decrease. The study investigated TLR4 rs11536889 genotype and allele distribution in healthy volunteers from Ukraine (n = 155), autoimmune hepatitis (AH) children (n = 56) and chronic hepatitis C (CHC) adult patients with various fibrosis severity stages (n = 78). Genotyping was performed by allele-specific PCR. The obtained genotype frequencies in Ukrainian population were: GG genotype—0.813, GC—0.168, CC—0.019 and showed no significant deviation from the ones expected according to Hardy-Weinberg equilibrium. AH and CHC patients were divided according to METAVIR fibrosis score into two groups—with stages F1–F2, and with F3–F4. The frequency of rs11536889 C allele carriers were higher in the group of AH patients with F3–F4 (0.179) comparing to patients with F1–F2 (0.071). This data did not reach the threshold for significance but showed a trend toward association between C allele carriers and higher fibrosis degree. Moreover, the significantly (p < 0.05) higher frequency of C allele carriers was observed in CHC patients with higher fibrosis degree (0.400) compared to patients with lower degree (0.057). Severe liver damage risk in such individuals is 11 increased (OR = 11.11, 95% CI: 2.70–45.66). Thus, TLR4 rs11536889 C allele is associated with higher level of fibrotic liver damage in patients with chronic hepatitis. [ABSTRACT FROM AUTHOR]

Mutations in the MECP2 gene are known to cause Rett syndrome (RTT)—a neurodevelopmental disorder, one of the most common causes of intellectual disability in females, with an incidence of 1 in 10000-15000. We have investigated exons 3 and 4 of the MECP2 gene, that coding MBD and TRD domains of the MeCP2 protein, in 21 RTT patients from Ukraine by PCR-DGGE analysis followed by Sanger sequencing of PCR fragments with abnormal migration profiles. In 13 of 21 (61.9%) patients 7 different mutations were identified one nonsense mutation—c. NC_000023.11:g.154031326G>A (MECP2:c.502C>T) and 4 missense mutation NC_000023.11:g.154031409G>T (MECP2:c.419C>T), NC_000023.11:g.154031355G>A (MECP2:c.473C>T), NC_000023.11:g.154031354A>C (MECP2:c.472A>C), NC_000023.11:g.154031431G>A (MECP2:c.397C>T) located in exon 4, a rare RTT-causing splice site mutation NC_000023.10:g.153296903T>G (MECP2:c.378-2A>C) in intron 3 and deletion NC_000023.10:g.1532 96079_153296122del44 in exon 4. The novel mutation MECP2:c.472A>C identified in our study in patients withclassic RTT phenotype leds to T158P substitution. It is one more confirmation of crucial role that 158 codon in MECP2 protein function. [ABSTRACT FROM AUTHOR]

The results of the analysis of exon deletions and duplications in the dystrophin gene sequences from 121 Duchenne and Becker muscular dystrophy patients from Ukraine are presented. It is shown that the level of de novo deletions in these families reaches 53%, and most of the deletions are localized in the distal part of the gene. It is important to take into account these data in genetic counseling to assess the risk of birth of patients with DMD/BMD, including in prenatal diagnostics, in families with Duchenne and Becker muscular dystrophy patients. [ABSTRACT FROM AUTHOR]

One consequence of the Perron-Frobenius Theorem on indecomposable positive matrices is that whenever an $$n\times n$$ matrix A dominates a non-singular positive matrix, there is an integer k dividing n such that, after a permutation of basis, A is block-monomial with $$k\times k$$ blocks. Furthermore, for suitably large exponents, the nonzero blocks of $$A^m$$ are strictly positive. We present an extension of this result for indecomposable semigroups of positive matrices. [ABSTRACT FROM AUTHOR]

The aim of this study was to examine association between IFNL4 gene ss469415590 and treatment efficiency in group of Ukrainian PEG-interferon/ribavirin-treated chronic hepatitis C patients. Study group consisted of 92 unrelated hepatitis C virus genotype 1 mono-infected patients: case group-29 patients with late or absent virological response; control group-63 patients with sustained virological response. Study material was genomic DNA. Genotyping was performed using amplification-refractory mutation system PCR. Statistical analysis was performed using GenePop and OpenEpi statistical packages. Obtained results show that ss469415590 Δ G/Δ G genotype is associated with poor virological response (OR = 3.62; CI 95%: 1.12-11.67) in PEG-interferon/ribavirin-treated chronic hepatitis C patients from Ukraine. [ABSTRACT FROM AUTHOR]

In the article, the data on the distribution of CYP21A2 gene mutations (gene deletion/conversion, c.290-13C>A/G, E110Vfs, I172N, cluster of mutations I236N, V237E, M239K, V281L, Q318X, and R356W) among Ukrainian patients with CAH (congenital adrenal hyperplasia) of different clinical phenotypes are presented. The most common mutation in the studied group ( n = 27) is the CYP21A2 gene deletion/conversion. Possible patterns of the studied mutations distribution in different populations of the world and the patients' genotype-phenotype association are discussed. [ABSTRACT FROM AUTHOR]

The main result of this article is that for collections of entrywise non-negative matrices the property of possessing a standard triangularization is stable under approximation. The methodology introduced to prove this result allows us to offer quick proofs of the corresponding results of [B. R. Yahaghi, Near triangularizability implies triangularizability, Canad. Math. Bull. 47 (2004), no. 2, 298-313], and [A. A. Jafarian, H. Radjavi, P. Rosenthal and A. R. Sourour, Simultaneous, triangularizability, near commutativity and Rota's theorem, Trans. Amer. Math. Soc. 347 (1995), no. 6, 2191-2199] on the approximations and triangularizability of collections of operators and matrices. In conclusion we introduce and explore a related topology on the power sets of metric spaces. [ABSTRACT FROM AUTHOR]

It was shown that some mutations in a number of zinc finger protein (Znf) genes cause intellectual disability (ID). In our study in two affected siblings with ID exome analysis revealed the homozygous coding sequence (cds) indel rs386809049 in the ZNF527 gene. The c.806_808 deletion CAT and insertion TGTGCA (rs386809049) results in substitution of Pro269 and Tyr270 to Leu, Cys and Asn, located in the interdomain region of Zinc finger protein 527. The analyses of site orthologs revealed that Pro269 and Tyr270 amino acid positions are conserved across mammalian species, indicating that there may be an evolutionarily conserved function. To evaluate the ZNF527 gene involvement in intellectual disability pathogenesis analysis of rs386809049 polymorphism in 300 individuals from general population of Ukraine was performed. The following genotypes distribution was detected: CAT/CAT (67.7%), CAT/TGTGCA (31%) and TGTGCA/TGTGCA (1.3%). As far as we know this is the first published data on rs386809049 distribution in the populations. The ZNF527 TGTGCA (polymorphic) allele frequency was 16.8% and CAT (wild type)-83.2% in the general population of Ukraine. Such a high polymorphic allele frequency allows us to suggest that analyzed rs386809049 polymorphism in ZNF527 gene cannot be the major cause of intellectual disability. [ABSTRACT FROM AUTHOR]

Probiotics are live microorganisms which, when administered in adequate amounts, confer a health benefit on the host. The probiotic Streptococcus salivarius has been shown to be effective in reducing the frequency of recurrent pharyngeal infections in children and adult populations. However, probiotics have not yet been evaluated in the treatment of acute pharyngotonsillitis in adults. We aimed to examine whether the addition of S. salivarius probiotics to the routine therapy of acute pharyngotonsillitis in adult patients may shorten disease duration and reduce symptom severity. This study was a prospective, randomized, placebo-controlled, double-blinded study comparing treatment with probiotics to placebo in addition to antibiotics in patients who were hospitalized with severe pharyngotonsillitis. Laboratory results, pain levels, body temperature, and daily volume of fluids consumed were recorded for both groups. Sixty participants were recruited, 30 for each group. No statistically significant differences between the two groups were observed regarding any of the major clinical and laboratory parameters examined. Supplement probiotic treatment with S. salivarius in patients with acute pharyngotonsillitis treated with penicillin is ineffective in relation to the parameters examined in this study and we cannot, therefore, recommend the use of S. salivarius during active pharyngotonsillar infection treated with penicillin. [ABSTRACT FROM AUTHOR]

The aim of this study was to clarify the association between the inosine triphosphate pyrophosphatase ( ITPA) gene variants and PEG-IFNα/RBV combination treatment induced anemia in chronic hepatitis C (CHC) Ukrainian patients. The data were collected from 80 CHC patients with HCV genotype 1 infection. All study participants received standard doses of PEG-IFNα and RBV. According to the Hb level changes patients were distributed into: case group-42 patients with combination treatment induced anemia, and control group-38 patients with no signs of anemia. Genotyping for ITPA gene rs1127354 and rs7270101 variants was performed using PCR followed by RFLP assay. Fisher's exact test was used to estimate the difference in genotype and allelic distribution. Distribution of rs7270101 genotypes was not significantly different between groups of CHC patients with RBV-induced anemia and without it. The frequency of rs1127354 A allele carriers was significantly higher ( P < 0.05) in group of CHC patients without anemia (23.7%) comparing to the group of patients with anemia (7.3%). The respective allele frequency in control group (13.2%) was almost 3-fold higher ( P < 0.05) comparing to the case group (4.9%). Significant association of ITPA gene rs1127354 with protection against RBV-induced hemolytic anemia was found in Ukrainian patients with CHC infection. Rs1127354 variant may assist as a pharmacogenetic marker in HCV antiviral therapy correction for side effect avoidance. [ABSTRACT FROM AUTHOR]

We performed comparative analysis of associations between the F2 gene G20210A polymorphism, the F5 gene G1691A polymorphism, the GP1BA gene -5T/C polymorphism, the ACE gene insertion/deletion (I/D) polymorphism and the risk of developing stroke in two samples drawn from ethnic Russian and ethnic Ukrainian populations. It has been shown, that among the Russian population, the risk of developing ischemic stroke is increased in DD genotype individuals (odds ratio ( OR) = 1.4, 95% confidence interval (CI) [1.05; 1.78], p = 0.02), whereas the I/I and I/D genotypes are associated with a decreased risk of developing stroke ( OR = 0.7, 95% CI [0.56; 0.95], p = 0.02). In the ethnic Ukrainian sample, differences in the distribution of genotypes and allele frequencies between stroke patients and the control group of subjects with regard to this polymorphic locus are statistically unreliable and the ACE gene I/D polymorphism is unassociated with the risk of developing stroke in the Ukrainian population ( OR = 0.8, 95% DI[0.48; 1.32], p = 0.45). The F2 gene G20210A polymorphism, the F5 gene G1691A polymorphism, and the GP1BA gene -5T/C polymorphism are unassociated with stroke risk factor across both ethnic samples. [ABSTRACT FROM AUTHOR]

In this study analysis of single nucleotide polymorhisms A351G, 397 and number of TA-repeats in ESR1 gene among 199 healthy volunteers from Ukraine was performed. Data concerning genotypes and particular alleles of polymorphic variants distribution were obtained. Possible mechanisms of these polymorphic variants role in ESR1 gene transcription and estrogen receptor expression changes are being discussed. [ABSTRACT FROM AUTHOR]

The results of clinical, genealogical, cytogenetic, and molecular genetic studies of 113 patients from 96 families with different forms of mental retardation from Ukraine are presented. This study was held as part of the CHERISH project of the Seventh Framework Program. The aim of the project is to improve the diagnostics methods of mental retardation in children in Eastern Europe and Central Asia through detailed analysis of known chromosomal and genes alterations and to find new candidate genes that cause mental retardation. All patients have a normal chromosome number (46XY or 46XX). The cases with fragile X syndrome were eliminated using molecular genetic methods. Genome rearrangements were found among 28 patients using cytogenetic analysis (variations in the number of gene copies). Eleven cases are unknown aberrations. The obtained results show the strong genetic heterogeneity of hereditary forms of mental retardation. [ABSTRACT FROM AUTHOR]

We show that a semigroup of positive matrices (all entries greater than or equal to zero) with binary diagonals (diagonal entries either 0 or 1) is either decomposable (all matrices in the semigroup have a common zero entry) or is similar, via a positive diagonal matrix, to a binary semigroup (all entries 0 or 1). In the case where the idempotents of minimal rank in $${\mathcal{S}}$$ satisfy a 'diagonal disjointness' condition, we obtain additional structural information. In the case where the semigroup is not necessarily positive but has binary diagonals we show that either the semigroup is reducible or the minimal rank ideal is a binary semigroup. We also give generalizations of these results to operators acting on the Hilbert space of square-summable sequences. [ABSTRACT FROM AUTHOR]

The frequency of heterozygote carriers of risk zone alleles of the FMR1 gene (40-47 CGG repeats) was significantly higher in the group of patients with ovarian dysfunctions compared to control group I. The frequency of these alleles shows an increasing tendency in patients poorly responding to superovulation induction in IVF cycles. The average number of oocytes and follicles obtained from the stimulation of superovulation was significantly decreased in FMR1 gene heterozygous risk zone allele carriers as compared to patients with normal alleles of the FMR1 gene. The general average dosage of exogenous gonadotrophin necessary for superovulation induction was significantly higher in heterozygote carriers of FMR1 gene risk zone alleles than in patients with normal genotype. As well, the FMR1 gene risk zone alleles can be one of the hereditary susceptibility factors of impaired natural and stimulated ovulation. [ABSTRACT FROM AUTHOR]

Analysis of F2, F5 and MTHFR genes SNPs allelic variants in population of Ukraine. Polymorphic variants were analyzed in 172 unrelated individuals using PCR followed by RFLP analysis. Following genotypes have been identified: GG (97%), GA (3%) for F2 gene G20210A SNP, GG (96.5%), GA (3.5%) for F5 gene G1691A SNP and CC (49.5%), CT (43%), TT (7.5%) for MTHFR gene C677T SNP. Following combined genotypes have been detected. We observed 1.7% heterozygous carriers of MTHFR gene 677T SNP which were heterozygous for one of the alleles of F5 1691A or F2 20210A genes. On the other hand, the 7.5% MTHFR gene 677T SNP homozygous individuals carried wild type alleles only of F5 and F2 genes. None of the individuals was carrying F5 1691 A and F2 20210A genes polymorphic variants simultaneously. The data about F2, F5 and MTHFR genes SNPs allelic frequencies in the population of Ukraine have been obtained. Thus, distribution of F2, F5 and MTHFR genotypes based on analysis of SNP in those three genes simultaneously has been detected. [ABSTRACT FROM AUTHOR]

An analysis of the number of CAG repeats in exon 1 of the gene was conducted in a group of 228 infertile males with azoospermia ( n = 68) and oligozoospermia ( n = 160), and in a control group (124 proven fathers) by means of polymerase chain reaction with subsequent fragment analysis on an ALF-Express automated fluorescent analyzer. Allele frequency with the number of CAG repeats ≤ 18 was found to be significantly higher ( P < 0.01) in the group of patients with azoospermia (17.7%) as compared to the control group (2.4%), and in the group of patients with oligozoospermia (12.5%) as compared to the control group (2.4%). Allele frequency with the number of CAG repeats ≥ 28 was shown to be significantly higher ( P < 0.01) in patients with oligozoospermia (12.5%) as compared to the control group (2.4%). Our data suggest an association between the number of CAG repeats and impaired spermatogenesis in azoospermic and oligozoospermic males. [ABSTRACT FROM AUTHOR]

The assays were developed for the analysis of the most frequent in Ukraine PAH gene mutations (R158Q, R408W, Y414C, P281L, R252W, and R261Q) in PKU patients and in healthy individuals. These assays are applied with the use of the gradient denaturing gel-electrophoresis (DGGE) method. The study of a spectrum of the PAH gene mutations in exons 5, 7, and 12 was carried out with the use of the DGGE method and subsequent sequencing of the non-identified mutant variants. [ABSTRACT FROM AUTHOR]

Direct molecular-genetic analysis of the region containing CAG and CCG repeats of the IT15 gene from 37 patients with the clinical diagnosis of Huntington’s chorea was carried out. The allele with the expansion of CAG repeats in the state of heterozygosity was found in 33 patients; DNA analysis did not confirm a clinical diagnosis in four cases. Twenty probable asymptomatic carriers were examined; 11 of them inherited a mutant chromosome. A disequilibrium in the linkage between the (CGG)10 allele and the alleles with the expansion of CAG repeats in the IT15 gene in a group of patients from Ukraine was found. Significant differences in character of instability of CAG repeats that depends on paternal or maternal inheritance were revealed. The genetic factors that are associated with age variability of onset of the disease were studied. [ABSTRACT FROM AUTHOR]

Two intercomplementary methods of 17p11.2 duplication/deletion identification have been elaborated: STR allelic variants analysis and direct PMP22 gene dosage measuring by means of quantitative Real-Time PCR. It has been carried out detection and analysis of 17p11.2 chromosome region rearrangements in CMT1 patients from Ukraine. It has been registered the high level of de novo cases with 17p11.2-duplication. It has been shown the 17p11.2 chromosome region duplication/deletion association with CMT1A and HNPP clinical phenotypes which may be used in differential diagnosis of this type of CMT polyneuropathy. [ABSTRACT FROM AUTHOR]

Mutations Arg124Cys, Thr538Arg, Arg555Thr, Arg555Gln, Leu558Pro, and His626Arg in TGFBI gene were analyzed by polymerase chain reaction and restriction in 84 patients with various forms of corneal stromal dystrophies from 49 unrelated families and 29 clinically healthy relatives of these patients. A new mutation in TGFBI gene, Leu558Pro, was identified in the patients with atypical lattice dystrophy. The haplotypes of four microsatellite markers surrounding TGFBI gene region were analyzed in 22 families. The data on association of genotype and phenotype suggest that the analysis of TGFBI gene mutations is important for differential diagnostics of corneal dystrophies. [ABSTRACT FROM AUTHOR]

The influence of FMR1, INHα1, NAT2, GSTT1 and GSTM1 genes mutations on ovarian function and their association with POF and “poor response” to exogenous GT after ovulation stimulation were investigated. The carriers of Ala257Thr transition predominated in the studied “poor responders” group. In 1.6% POF patients and 2.5% persons from “poor responders” group, but nobody from control group this transition combined with intermediate alleles of FMR1 gene was observed. The frequency of deletion in GSTM1 gene in “poor responders” group was significantly higher (p = 0.01) than in normal ovulatory control group. The frequency of Ser680Ser-Ala307Ala polymorphic genotype (22.2%) in “poor responders” group was significantly higher (p = 0.028) than in normal-ovulatory control group (7.7%). The daily dosage of GT in intermediate alleles of FMR1 gene carriers as well in patients with “slow acetylation” NAT2 genotype was significantly higher in comparison to patients without intermediate alleles and patients with “quick acetylation” NAT2 genotype. Quantity of oocytes after stimulation ovulation in women with INHα1 gene Ala257Thr transition were significantly decreased in comparison to patients without such mutation. Further investigations of these genes can play a major role in POF studying and modulation of ovarian response to exogenous GT. [ABSTRACT FROM AUTHOR]

An analysis of the mutations H626R (exon 14) and A546T and T538R (exon 12) of the TGFBI gene using the polymerization chain reaction method with subsequent restriction, performed on 52 individuals from 22 unrelated families, together with a clinical diagnosis of different types of lattice corneal dystrophy is carried out. The H626R mutation was discovered in patients in 12 of the 17 families examined with a clinical diagnosis of lattice dystrophy with late manifestation and in six individuals in whom no clinical manifestations had yet appeared. Interestingly, the T538R and H626R mutations, which are associated with lattice dystrophy with late manifestation of the disease, were discovered in two patients with preliminary clinical diagnosis of lattice dystrophy (type I), a condition which is characterized by early manifestation of the disease. The A546T mutation was not found in any of our patients. Possible features of the mutant protein tgfbi and its involvement in the pathogenesis of the disease are also discussed. The results obtained indicate that the analysis of mutations in the TGFBI gene is of considerable importance for differential diagnosis of corneal dystrophy with predictive and therapeutic use as well as for genetic counseling in high-risk families. [ABSTRACT FROM AUTHOR]

Focuses on matrix semigroups and algebras on which rank is commutable. Definition of congruence; Theorems and proofs presented.

We construct an irreducible multiplicative semigroup of non-negative square-zero operators acting on L p[0,1), for 1≤ p<∞. [ABSTRACT FROM AUTHOR]

Allelic polymorphism of five microsatellite loci of the human Y chromosome ( DYS19, DYS390, DYS391, DYS392, and DYS393) was analyzed in samples of male populations from Ukraine, Russia, and Belarus (152 subjects in total). The allelic diversity indices ( Dg) were determined for all loci; they varied from 0.23 to 0.72. The mean values of this parameter in the Ukrainian, Russian, and Belarussian populations were 0.45, 0.47, and 0.52, respectively. A total of 53 different haplotypes were found in 152 subjects from three populations. The most frequent haplotype was found in 14.5% of the subjects, whereas 35 haplotypes (23%) were each found in only one person. The haplotypic diversity index ( Dhp) was 0.94. The genetic distances between the populations studied and some populations of Western and Central Europe were estimated. These data were used to construct a phylogram (tree) of genetic similarity between the populations, which demonstrated that the three Eastern Slavic populations are genetically close to one another and remote from Western European populations. [ABSTRACT FROM AUTHOR]

A normal polymorphism at three triplet repeat loci (myotonic dystrophy (DM), dentatorubral-pallidoluysian atrophy (DRPLA) and spinocerebellar ataxia type 1 (SCA1)) were examined in healthy unrelated individuals from the Siberian Yakut (Mongoloid) population, the Adygei (Caucasian) population and nine East European populations: populations from Russia (Holmogory, Oshevensk, Kursk, Novgorod, Udmurts, Bashkir), two Ukrainian populations (Lviv and Alchevsk) and one Belarussian. The distribution of alleles for DRPLA and SCA1 were similar for all East-European populations. For the DM locus, East European populations had typical allele distribution profiles with two modes, (CTG)[sub 5] and (CTG)[sub 11-14], but some differences were found for the Bashkir population where alleles containing 11-14 CTG repeats had relatively higher frequency. The Yakut population had different allele spectra for all types of repeats studied. Higher heterozygosity levels and insignificant differences between expected and observed heterozygosity were found for all tested loci. The latter led us to suggest that the trinucleotide repeat loci analysed are not influenced by selection factors and could be useful for genetic relationship investigations in different populations. [ABSTRACT FROM AUTHOR]

TGFBI gene mutations cause corneal stromal dystrophies of autosomal dominant inheritance. The most frequent complication of stromal dystrophies is recurrent corneal erosion with varying degree of accompanying inflammation. IL-1, IL-6 and IL-8 are main cytokines involved in corneal erosion healing. This study aimed to investigate the association between IL1B gene −511C/T, IL6 gene −174G/C and IL8 gene −781C/T polymorphisms and risk of recurrent erosion development in patients with hereditary corneal stromal dystrophies. A trend to decrease of IL1B gene −511TT genotype frequency in group with erosion (3.7%) comparing to control (6.7%) was observed. IL6 gene −174C allele carriers frequency in control group (65.9%) was significantly ( P < 0.05) lower comparing to patients with erosion (80.5%). Frequency of IL8 −781TT genotype was significantly ( P < 0.05) lower in the group with erosion (10.7%) comparing to patients without erosion (30.8%) and control (25%). IL6 gene −174C allele may be considered as genetic marker of corneal erosion risk in patients with hereditary stromal corneal dystrophies, whereas IL8 −781TT genotype is associated with negative recurrent erosion prognosis in such patients. [ABSTRACT FROM AUTHOR]

With the addition of strong austenitizing elements (nickel, manganese), which ensure 30-40% austenite in the alloy, the amount of boron can be increased to 0.6-0.7% with a carbon concentration no higher than 1.4%, producing a higher wear resistance with some moderation of the impact resistance. [ABSTRACT FROM AUTHOR]