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Öğe Frequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense mutation (I247V)(Elsevier, 2014) Gunesacar, Ramazan; Celik, Muhammet Murat; Arica, Vefik; Elmacioglu, Sibel; Ozturk, Oktay HasanIn the present study, 1000 patients with clinical suspicion of FMF were retrospectively reviewed to determine the spectrum of MEFV gene mutations by using DNA sequence analysis between September, 2008 and April, 2012. Sixteen different mutations and 55 different genotypes were detected in 618 of 1000 patients. Among 16 different mutations, R202Q (21.35%) was the most frequently observed mutation; followed by E148Q (8.85%), M694V (7.95%), M680I (2.40%), V726A (1.85%), M694I (0.95%), A744S (0.80%), R761H (0.55%), P283L (0.35%), K695R (0.20%), E230K (0.15%), L110P (0.10%), I247V (0.05%), G196W (0.05%) and G304R (0.05%). In the present study, a novel missense mutation (I247V) and a silent variant (G150G) were identified in the MEW gene. On the other hand, P238L, G632A and G304R mutations are the first cases reported from Turkey. Our results indicated that MEW mutations are highly heterogeneous in our study population as in other regions of Turkey and mutation screening techniques such as PCR-RFLP, amplification refractory mutation system or reverse hybridization do not adequately detect uncommon or novel mutations. Therefore, it was proven that sequence analysis of the MEW gene could be useful for detection of rare or unknown mutations. (C) 2014 Elsevier B.V. All rights reserved.Öğe Presentation of two new mutations in the 3?untranslated region of the ?-globin gene and evaluating the molecular spectrum of thalassemia mutations in the Mediterranean region of Turkey(Springer, 2021) Arpaci, Abdullah; Gul, Bahar Unlu; Ozcan, Oguzhan; Ilhan, Gul; El, Cigdem; Dirican, Emre; Elmacioglu, SibelThalassemia is a common genetic disorder. We aimed to present thalassemia mutation data that covers a period of 7 years from the Mediterranean region of Turkey by comparing with hemoglobin indices and to contribute to prenatal diagnosis and genetic counseling studies which should be decided very quickly. In this study, in which a retrospective archive was scanned, the cases were first grouped as alpha and beta thalassemia, and then beta thalassemia mutations were examined in a total of 5 groups as UTR-Pro, Codon, IVS, beta(0), and beta(+). We have reached the family of the proband that analyzed their Hb indices and genetic mutation. All mutations were statistically compared with Hb indices, HbF, and HbA(2). We have identified two new beta thalassemia mutations that have the feature of not being defined previously [HBB:C*62 A>G. (3 ' UTR+1536 A>G) and HBB:C*1 G>A (3 ' UTR+1475 G>A)]. The most commonly encountered 23 mutations account for 74.7% of all mutations which is unlike the literature. In the beta thalassemia group, 73 different mutations were detected. The most common beta thalassemia mutation was HBB: c.93-21 G>A (IVS I-110 G>A) with a frequency of 19.72%. A statistically significant difference was found when comparing the mutation groups with Hb indices. We think that it may be useful to evaluate the mutations we have newly identified too together with the Hb indices especially in evaluating the carriers of thalassemia and it will contribute to prenatal diagnosis and genetic counseling studies which should be decided very quickly.Öğe Prevalence and Characterization of ESBL- and AmpC-producing Escherichia coli from Cattle(Kafkas Univ, Veteriner Fakultesi Dergisi, 2017) Aslantas, Ozkan; Elmacioglu, Sibel; Yilmaz, Ebru SebnemIn this study, it was aimed to determine the prevalence of extended spectrum beta-lactamase (ESBL) and/or AmpC type beta-lactamase (AmpC) producing Escherichia coli from cattle in Hatay. For this purpose, 312 rectal swabs samples were collected from apparently healthy cattle. ESBL production was phenotypically investigated by disc combination method and double disc synergism test and beta-lactamase genes (bla(CTX-M), bla(CMY-2), bla(SHV), bla(OXA), and bla(TEM)) and plasmid mediated quinolone resistance (PMQR) genes (qnrA, qnrB, qnrS and aac(6')-Ib) were screened by polymerase chain reaction (PCR) and subsequent sequence analysis. Antimicrobial susceptibility of the isolates were determined using disc diffusion method and their phylogenetic groups were also searched by PCR. Twenty six (8.3%) isolates were found to be ESBL producer by phenotypic tests. The following ESBL/AmpC genes were detected: bla(CTX-M-15) (n=12), bla(CTX-M-1) (n=11), bla(CTX-M-3) (n=2), and bla(CMY-2) (n=1). PMQR genes were detected in 11 (42.3%) ESBL producing E. coli isolates and these isolates were only positive for aac(6')-Ib-cr and qnrS1 genes. Twenty two (84.6%) of the isolates exhibited multidrug resistance (MDR) phenotype. ESBL/AmpC producing E. coli isolates were observed to be belonged to B1 (50%), A (34.6%) and D (15.4%) phylogroups. This study was the first to describe the presence of CTX-M-15, CTX-M-3, CTX-M-1 and CMY-2 producing E. coli in cattle in Turkey and the co-existence of aac(6')-Ib-cr and qnrS1 genes in some isolates.Öğe Prevalence of Demodex spp among alcohol-dependent patients(Cukurova Univ, Fac Medicine, 2016) Kokacya, Mehmet Hanifi; Kaya, Ozlem Aycan; Copoglu, Umit Sertan; Elmacioglu, SibelPurpose: Demodex folliculorum and Demodex brevis are common ectoparasites found in humans and live on the pilosebaceous glands and hair follicles especially on the facial region. Chronic alcohol consumption can weaken immune system and cause more severe infections. Demodex spp is assumed to be more common in alcohol-dependent patients due to partial suppression of immune system and lack of good self-care. The present study aims to investigate the prevalence of Demodex spp. ectoparasite in alcohol-dependent patients. Material and Methods: In the study, 24 patients with a diagnosis of alcohol dependence and 24 healthy control subjects were subjected to standard superficial skin biopsy technique to determine Demodex spp. Results: In 37.5% of alcohol-dependent patients and 4.1% of control subjects Demodex spp. were found positive. Considering the prevalence of Demodex spp, a significant difference was found between alcoholdependent patients and control subjects. Conclusion: Demodex spp. are more common in alcoholdependent patients due conditions of reduced self-care and immunosuppression. Demodex parasites should be considered in alcohol-dependent patients with skin lesions, especially on the face, and should to be treated if needed.
