The impact of the gene variants fv leiden, fii g20210a, mthfr c677t and pai-1 4g/5g on pregnancy loss in women from central Serbia

© 2020, University of Kragujevac, Faculty of Science. All rights reserved. Thrombophilia is a condition of enhanced functionality of the haemostatic system with an increased tendency for thrombosis, and it can be a congenital, acquired, or complex defect. Pregnancy can be the cause of acquired transitory thrombophilia, which may lead to complications if inherited thrombophilia is also present. The aim of this study was to determine the genetic structure of the population based on the frequency of the gene variants factor V Leiden G1691A, factor II G20210A, methylenetetrahydrofolate reductase C677T, and plasminogen activator inhibitor-1 4G/5G, as well as to investigate the predictive value of these gene variants in repeated miscarriages. The study included 87 female patients from Central Serbia with an average age of 32.7±4.5 years with inherited thrombophilia and previous miscarriages, with or without intrauterine foetal death. The exclusion criteria included the existence of gynaecological and infectious aetiology and the deficit of factors important for the coagulation process. The resulting genotypes were in Hardy-Weinberg equilibrium. The frequency of genotypes with mutated alleles was significantly higher in this group of patients than in the control group for all variants except factor II G20210A. The most commonly mutated alleles were the plasminogen activator inhibitor-1 4G allele (0.61) and methylenetetrahydrofolate reductase T allele (0.47). Double mutation of plasminogen activator inhibitor-1 4G/5G and methylenetetrahydrofolate reductase C677T was dominant in patients with recurrent pregnancy loss (46.15%). The presence of a combination of genetic variants of the plasminogen activator inhibitor-1 4G/5G and methylenetetrahydrofolate reductase C677T is a significant predictor of spontaneous abortions in women with inherited thrombophilia in Central Serbia

Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome : case report and review of the literature

Altres ajuts: The financial support for carrying out this work was received from Fundació Parc Taulí- Institut d'Investigació i Innovació Parc Taulí I3PT (CIR2015/040), Asociación Española de Síndrome de Angelman [...].Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is caused by the lack of expression in neurons of the UBE3A gene, which is located in the 15q11.2-q13 imprinted region. Functional loss of UBE3A is due to 15q11.2-q13 deletion, mutations in the UBE3A gene, paternal uniparental disomy and genomic imprinting defects. We report here two patients with clinical features of AS referred to our hospital for clinical follow-up and genetic diagnosis. Methylation Specific-Multiplex Ligation-Dependent Probe Amplification (MS-MLPA) of the 15q11.2-q13 region was carried out in our laboratory as the first diagnostic tool detecting two novel UBE3A intragenic deletions. Subsequently, the MLPA P336-A2 kit was used to confirm and determine the size of the UBE3A deletion in the two patients. A review of the clinical features of previously reported patients with whole UBE3A gene or partial intragenic deletions is presented here together with these two new patients. Although rare, UBE3A intragenic deletions may represent a small fraction of AS patients without a genetic diagnosis. Testing for UBE3A intragenic exonic deletions should be performed in those AS patients with a normal methylation pattern and no mutations in the UBE3A gene

The Impact of the Gene Variants FV Leiden, FII G20210A, MTHFR C677T and PAI-1 4G/5G on Pregnancy Loss in Women from Central Serbia

Thrombophilia is a condition of enhanced functionality of the haemostatic system with an increased tendency for thrombosis, and it can be a congenital, acquired, or complex defect. Pregnancy can be the cause of acquired transitory thrombophilia, which may lead to complications if inherited thrombophilia is also present

Uticaj temperature na klijanje semena Cuscuta campestris Yunk.

Studies of biological characteristics of seeds and conditions for their germination have a major importance for planning and executing rational measures of weed control. The aim of this study was to investigate the effect of different temperatures on germination of C. campestris seeds. Three treatments (T1- storage at room temperature; T2 – exposure to 4°C for 30 days; T3 – scarification by concentrated sulphuric acid) differing in manipulation with seeds before germination were tested at different temperatures (5°C, 10°C, 15°C, 20°C, 25°C, 30°C, 35°C, 40°C, 45°C). Germinated seeds were counted daily for ten days and the length of seedlings was measured on the last day. The results showed that differences in germination of C. campestris seeds were very prominent between temperatures, as well as between treatments T1, T2 and T3. Seeds failed to germinate at 5°C and 45°C in all treatments (T1, T2, T3). Germination ranged from 6.25 at 10°C to 96.88%, the highest percentage, achieved at 30°C.Izučavanje bioloških karakteristika semena i uslova u kojima klijaju ima veliki značaj za planiranje i realizaciju racionalnih mera za kontrolu korova. Cilj ovog istraživanja je bio da se ispita efekat različitih temperatura na klijanje semena C. campestris. U ogled su bila uključena tri tretmana (T1 – semena čuvana u laboratorijskim uslovima na temperaturi 22- 25°C, T2 – semena koja su prethodno 30 dana izlagana niskoj temperaturi (4°C), T3 – semena koja su skarifikovana koncentrovanom sumpornom kiselinom), pri čemu su svi tretmani ispitivani na sledećim temperaturama: 5°C, 10°C, 15°C, 20°C, 25°C, 30°C, 35°C, 40°C, 45°C. Svakodnevno, u periodu od deset dana, rađeno je prebrojavanje proklijalih semena, a poslednjeg dana su izmerene i dužine klijanaca. Dobijeni rezultati ukazuju da postoje značajne razlike u klijanju semena u odnosu na ispitivane temperature i tretmane. Semena nisu klijala na temperaturama od 5°C i 45°C ni u jednom od rađenih tretmana. Procenat klijanja se kretao od 6,25% do 96,88%, pri čemu je najveći procenat u sva tri tretmana zabeležen na temperaturi od 30°C

LTBP4, SPP1, and CD40 Variants: Genetic Modifiers of Duchenne Muscular Dystrophy Analyzed in Serbian Patients

Background: Clinical course variability in Duchenne muscular dystrophy (DMD) is partially explained by the mutation location in the DMD gene and variants in modifier genes. We assessed the effect of the SPP1, CD40, and LTBP4 genes and DMD mutation location on loss of ambulation (LoA). Methods: SNPs in SPP1-rs28357094, LTBP4-rs2303729, rs1131620, rs1051303, rs10880, and CD40-rs1883832 were genotyped, and their effect was assessed by survival and hierarchical cluster analysis. Results: Patients on glucocorticoid corticosteroid (GC) therapy experienced LoA one year later (p = 0.04). The modifying effect of SPP1 and CD40 variants, as well as LTBP4 haplotypes, was not observed using a log-rank test and multivariant Cox regression analysis. Cluster analysis revealed two subgroups with statistical trends in differences in age at LoA. Almost all patients in the cluster with later LoA had the protective IAAM LTBP4 haplotype and statistically significantly fewer CD40 genotypes with harmful T allele and “distal” DMD mutations. Conclusions: The modifying effect of SPP1, CD40, and LTBP4 was not replicated in Serbian patients, although our cohort was comparable in terms of its DMD mutation type distribution, SNP allele frequencies, and GC-positive effect with other European cohorts. Cluster analysis may be able to identify patient subgroups carrying a combination of the genetic variants that modify LoA

Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome : case report and review of the literature

Altres ajuts: The financial support for carrying out this work was received from Fundació Parc Taulí- Institut d'Investigació i Innovació Parc Taulí I3PT (CIR2015/040), Asociación Española de Síndrome de Angelman [...].Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is caused by the lack of expression in neurons of the UBE3A gene, which is located in the 15q11.2-q13 imprinted region. Functional loss of UBE3A is due to 15q11.2-q13 deletion, mutations in the UBE3A gene, paternal uniparental disomy and genomic imprinting defects. We report here two patients with clinical features of AS referred to our hospital for clinical follow-up and genetic diagnosis. Methylation Specific-Multiplex Ligation-Dependent Probe Amplification (MS-MLPA) of the 15q11.2-q13 region was carried out in our laboratory as the first diagnostic tool detecting two novel UBE3A intragenic deletions. Subsequently, the MLPA P336-A2 kit was used to confirm and determine the size of the UBE3A deletion in the two patients. A review of the clinical features of previously reported patients with whole UBE3A gene or partial intragenic deletions is presented here together with these two new patients. Although rare, UBE3A intragenic deletions may represent a small fraction of AS patients without a genetic diagnosis. Testing for UBE3A intragenic exonic deletions should be performed in those AS patients with a normal methylation pattern and no mutations in the UBE3A gene