An EPR study on single crystals of dimethyl-1,3-cyclohexanedione by gamma-rays

WOS: 000300852100001Single crystals of dimethyl-1,3-cyclohexanedione (C8H12O2) were produced by slow evaporation of the concentrated ethyl acetate solutions. These single crystals were exposed to Co-60 gamma-rays with a dose speed of 0.950 kGy/h at room temperature for 24, 48, and 72 h. The free radicals of the samples irradiated for 48 and 72 h were detected using electron paramagnetic resonance (EPR)-X-band spectrometer. EPR measurements were performed between 120 and 300 K. The sample irradiated for 48 h by gamma-rays was rotated in steps of 10 degrees at 298 K. The spectrum parameters were found to be dependent on the temperature. Two radicals were determined in the molecular structure irradiated. These radiation damage centers were called R1 and R2. The average values of g and the hyperfine coupling constants were calculated as follows: a(Ha) = 6.84 G, a(Hb) = 3.60 G, g = 2.0040 for R1, a(H) = 28 G, g = 2.0062 for R2.Scientific Research Projects coordination centers of Nigde; Selcuk University, TurkeyThis study was partially supported by the Scientific Research Projects coordination centers of Nigde and Selcuk University, Turkey

Sequencing of mutations in the serine/threonine kinase domain of the bone morphogenetic protein receptor type 2 gene causing pulmonary arterial hypertension

WOS: 000384426300007PubMed ID: 26645265Objective: Germline mutations in the bone morphogenetic protein receptor type-2 (BMPR2) gene are considered to be a major risk factor for pulmonary arterial hypertension (PAH). BMPR2 mutations have been reported in 10%-20% of idiopathic PAH and in 80% of familial PAH cases. The aim of this study was to evaluate the frequency of mutations in the serine/threonine kinase domain of the BMPR2 gene in a group of patients from a single PAH referral center in Turkey. Methods: This cross-sectional study used a DNA-sequencing method to investigate BMPR2 mutations in the serine-threonine-kinase domain in 43 patients diagnosed with PAH [8 with idiopathic PAH and 35 with congenital heart disease (CHD)] from a single PAH referral center. Patients were included if they had a hemodynamically measured mean pulmonary arterial pressure of >25 mm Hg with a mean pulmonary capillary wedge pressure of A)], in one patient with idiopathic PAH in exon 8 of the BMPR2 gene. The mutation was detected in a 27-year-old female with a remarkable family history for PAH. She had a favorable response to endothelin receptor antagonists. No mutations were detected in the exons 5-11 of the BMPR2 gene in the PAH-CHD group. Conclusion: A missense mutation was detected in only one of the eight patients with idiopathic PAH. The BMPR2 missense mutation rate of 12.5% in this cohort of Turkish patients with idiopathic PAH was similar to that seen in European registries. The index patient was a young female with a family history remarkable for PAH; she had a good long-term response to PAH-specific treatment, probably due to the early initiation of the treatment. Genetic screening of families affected by PAH might have great value in identifying the disease at an early stage.Ege University, APAK [2.100.2012.0038]This study was supported by Ege University, APAK (Grant Number: 2.100.2012.0038)

Molecular Basis of beta-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation

WOS: 000361322400003PubMed ID: 26076395beta-Thalassemia (beta-thal) is the most common monogenic disorder in Turkey. The aim of this study was to investigate the spectrum of beta-thal mutations in the Aegean region of Turkey. The data was derived from 1171 unrelated beta-thal subjects, detected in a regional reference hospital between November 2004 and December 2013. Screening for the 22 common mutations was performed using the polymerase chain reaction (PCR)-reverse dot-blot method, and direct automated DNA sequencing for the unknown samples. Thirty-one different beta-thal alleles were identified. Seven mutations, namely IVS-I-110 (G>A) (41.7%), IVS-I-1 (G>A) (8.9%), IVS-II-745 (C>G) (8.6%), codon 8 (-AA) (7.7%), IVS-II-1 (G>A) (7.2%), IVS-I-6 (T>C) (6.6%), codon 39 (C>T) (4.6%) accounted for 85.3% of the mutated alleles. Frequencies of the remaining 24 beta-thal mutations were less than 2.2%; these included one novel mutation [HBB: c. 206_ 212del (p. Leu69Profs* 19)], and four others [-56 (G>C), codon 16 (-C), IVS-I (-3) (C>T) (codon 29), codon 76 (-C)] found in Turkey for the first time. The results will help to prevent severe beta-thal through genetic counseling and prenatal diagnosis (PND) in the Aegean region of Turkey

MicroRNA Expression Profile in the Prenatal Amniotic Fluid Samples of Pregnant Women with Down Syndrome

WOS: 000428204000006PubMed ID: 29219113Background: Down syndrome, which is the most common human chromosomal anomaly that can affect people of any race and age, can be diagnosed prenatally in most cases. Prenatal diagnosis via culture method is time-consuming; thus, genetic analysis has thus been introduced and is continually being developed for rapid prenatal diagnosis. For this reason, the effective use of microRNA profiling for the rapid analysis of prenatal amniotic fluid samples for the diagnosis of Down syndrome was investigated. Aims: To evaluate the expression levels of 14 microRNAs encoded by chromosome 21 in amniotic fluid samples and their utility for prenatal diagnosis of Down syndrome. Study Design: Case-control study. Methods: We performed invasive prenatal testing for 56 pregnant women; 23 carried fetuses with Down syndrome, and 33 carried fetuses with a normal karyotype. Advanced maternal age and increased risk for Down syndrome in the screening tests were indications for invasive prenatal testing. The age of gestation in the study and control groups ranged between 17 and 18 weeks. The expression levels of microRNA were measured by real-time polymerase chain reaction. Results: The expression levels of microRNA-125b-2, microRNA-155, and microRNA-3156 were significantly higher in the study group than in the control group. Conclusion: The presence of significantly dysregulated microRNAs may be associated with either the phenotype or the result of abnormal development. Further large-scale comparative studies conducted in a variety of conditions may bring novel insights in the field of abnormal prenatal conditions.NIHUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [F30CA213956, R01NS070715]; Ege University School of MedicineEge UniversityFinancial support was received from Ege University School of Medicine

Prenatal Evaluation of MicroRNA Expressions in Pregnancies with Down Syndrome

WOS: 000373461800001PubMed ID: 27110565Background. Currently, the data available on the utility of miRNAs in noninvasive prenatal testing is insufficient in the literature. We evaluated the expression levels of 14 miRNAs located on chromosome 21 in maternal plasma and their utility in noninvasive prenatal testing of Down Syndrome. Method. A total of 56 patients underwent invasive prenatal testing; 23 cases were carrying Down Syndrome affected fetuses, and 33 control cases carrying unaffected, normal karyotype fetuses were included for comparison. Indications for invasive prenatal testing were advanced maternal age, increased risk of Down Syndrome in screening tests, and abnormal finding in the sonographic examination. In both the study and control groups, all the pregnant women were at 17th and 18th week of gestation. miRNA expression levels were measured using real-time RT-PCR. Results. Significantly increased maternal plasma levels of miR-3156 and miR-99a were found in the women carrying a fetus with Down Syndrome. Conclusion. Our results provide a basis for multicenter studies with larger sample groups and microRNA profiles, particularly with the microRNAs which were found to be variably expressed in our study. Through this clinical research, the utility of microRNAs in noninvasive prenatal testing can be better explored in future studies.Ege University Faculty of MedicineEge UniversityThis paper is funded by Ege University Faculty of Medicine