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Öğe Association of eNOS Gene Polymorphisms G894T and T-786C with Risk of Hepatorenal Syndrome(Hindawi Ltd, 2016) Seckin, Yuksel; Yigit, Ali; Yesilada, Elif; Gulbay, Gonca; Cagin, Yasir Furkan; Gozukara, Harika; Bilgic, YilmazBackground. There are no studies investigating the relationship between endothelial nitric oxide synthase (eNOS) gene polymorphisms and hepatorenal syndrome (HRS). Aim. The purpose of this study is to elucidate whether eNOS gene polymorphisms (G894T and T-786C) play a role in the development of type-2 HRS. Methods. This study was carried out in a group of 92 patients with cirrhosis (44 patients with type-2 HRS and 48 without HRS) and 50 healthy controls. Polymorphisms were determined by polymerase chain reaction (PCR) and melting curve analysis. Results. We did not find any significant difference in allele and genotype distributions of the eNOS -T-786C polymorphism among the groups (p = 0.440). However, the frequency of GT (40.9%) and TT (13.6%) genotypes and mutant allele T (34.1%) for the eNOS G894T polymorphism were significantly higher (p < 0.001 and p < 0.001, resp.) in the HRS group than in both the stable cirrhosis (14.6%, 4.2%, and 11.5%, resp.) and the control (22.0%, 2.0%, and 13.0%, resp.) groups. Conclusion. The occurrence of mutant genotypes (GT/TT) and mutant allele T in eNOS -G894T polymorphisms should be considered as a potential risk factor in cirrhotic patients with HRS.Öğe Calreticulin Mutations in Philadelphia Chromosome Negative Myeloproliferative Neoplasms(Akad Doktorlar Yayinevi, 2022) Gulbay, Gonca; Bar, Harika Gozukara; Yesilada, Elif; Erkurt, Mehmet AliCalreticulin (CALR) is a multifunctional protein. CALR gene mutations are one of the driver mutations in cases with essential thrombocythemia (ET) and primary myelofibrosis (PMF). The aim of this study is to comprehend the functional relationship of CALR type1 and type2 mutations in the pathogenesis of Phi-ladelphia Chromosome Negative Myeloproliferative Neop-lasms (MPNs) by emphasizing the incidence, biological and clinical features of CALR mutations in Janus Kinase2 (JAK2) V617F mutation negative and thrombopoietin receptor gene (MPL) mutation negative ET and PMF cases, and to determine their effect on the disease phenotype. The laboratory results of cases analyzed with essential throm-bocythemia and primary myelofibrosis were analyzed retros-pectively. In our study of the ET cases, 18.4% CALR exon9 mutation car-ried, 5.1% a thrombopoietin receptor gene (MPL) mutation, and 57.1% JAK2 V617F mutation. 19.4% of our cases do not carry any of these three mutations. Our ET patients with CALR muta-tion positive, 61.1% have type1, 27.8% have type2 and 11.1% have mutations other than type1 and type2. In our study of the PMF cases, 27.7% CALR exon9 mutation carried, 3.6% a MPL mutation, and 47% JAK2 V617F muta-tion. 21.7% cases are triple negative. Our PMF patients with CALR mutation positive, 69.6% have type1, 30.4% have type2 mutations. CALR mutations are a new and important molecular marker for Philadelphia chromosome negative myeloproliferative neoplasm cases. Longer follow-up and larger case populations are required to investigate the effects of clinical and laboratory pa-rameters of diseases.Öğe Evaluation of the JAK2 V617F gene mutation in myeloproliferative neoplasms cases: a one-center study from Eastern Anatolia(Walter De Gruyter Gmbh, 2019) Gulbay, Gonca; Yesilada, Elif; Erkurt, Mehmet Ali; Bag, Harika Gozukara; Kuku, Irfan; Kaya, EminObjective: Detection of JAK2 V617F in myeloproliferative neoplasms (MPNs) is very important in both diagnosis and disease progression. In our study, we investigated the frequency of JAK2 V617F mutation in patients with myeloproliferative disorders. Methods: We retrospectively reviewed the records of 720 patients (174 females and 546 males) who were tested for JAK2 V617F mutation from January 2007 to December 2017. Results: In our patients were determined 22.6% JAK2 V617F mutation. 33.3% in women, 19.2% in men have been positive for JAK2 V617F mutation. In our study JAK2 V617F present in 48.6% of essential thrombocythemia, 80.5% of polycythemia rubra vera (PV), 47.5% of primary myelofibrosis, 10% of MPNs, unclassifiable, 0.8% of others. We also investigated the difference in hematological parameters [white blood cell, hemoglobin (Hb), hematocrit (HCT), red blood cell distribution widths (RDW) and platelets count (PLT)] between JAK2 V617F positive and JAK2 V617F negative patients. Conclusions: Investigation of the JAK2 V617F mutation is very important in cases of MPNs. In our study JAK2 V617F mutation was higher in PV, essential thrombocythemia, and primary myelofibrosis patients. However, there were significant differences in Hb, HCT, RDW and PLT levels in mutation-positive patients.Öğe Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey(Elsevier Science Bv, 2012) Yesilada, Elif; Taskapan, Hulya; Gulbay, GoncaFamilial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and serositis. Mutations in the Mediterranean fever gene (MEFV) localized on the short arm of chromosome 16 cause FMF. Over 90 MEFV missense/nonsense mutations have been identified so far in FMF patients, mostly in the 10th exon of the gene. In this study, the molecular test results of 891 patients identified as having FMF clinical symptoms referred to Molecular Genetics Laboratory of the Department of Medical Biology and Genetics, Faculty of Medicine, Inonu University, Malatya/Turkey were retrospectively evaluated. Patients were referred by their physicians for MEFV mutation detection. The DNA fragments including hot spots within the coding sequences of the MEFV gene were amplified by PCR using genomic DNA and analyzed by pyrosequencing technique. Of the 891 patients investigated, 420 (47.13%) had at least one mutation. The most frequent mutation was E148Q, followed by M694V, M680I (G/C), P369S, V726A, R761H, A744S, M694I, K695R and F479L mutations. In addition, a novel missense mutation (M694K) was reported in seven members of a family in the course of mutation screening of patients. (C) 2012 Elsevier B.V. All rights reserved.Öğe PROTECTIVE EFFECT OF MYRICETIN AGAINST E2-INDUCED GENOTOXIC DAMAGE IN HUMAN LYMPHOCYTES(Parlar Scientific Publications (P S P), 2012) Yuksel, Sengul; Yesilada, Elif; Gulbay, Gonca; Kurtoglu, Elcin; Savaci, S. SerapProtective effect of myricetin (MRY) against the cytotoxic and genotoxic effects of a hormonal steroid, 17 beta-estradiol (E-2), was assessed in peripheral blood human lymphocyte culture. Sister chromatid exchanges (SCE), mitotic index (MI) and replication index (RI) were scored as genetic endpoints. Firstly, the genotoxic effect of different amounts (5, 10 and 20 mu M final concentration) of E2 was tested, and 10 and 20 mu M E-2 levels were detected as genotoxic. In the second set, E-2 groups were treated with 10 mu M MRY. MRY reduced the SCE but increased MI as well as RI, suggesting its protective action on human lymphocytes in vitro against E-2-induced genotoxic damage.
