Browsing by Author "Türe, Mehmet"
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Item 9p delesyon sendromu: Olgu sunumu(Uludağ Üniversitesi, 2013-04-03) Şahintürk, Serdar; Türe, Mehmet; Yakut, Tahsin; Gülten, Tuna; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.9p delesyon sendromu; trigonosefali, orta yüz hipoplazisi, uzun filtrum, hipertelorizm gibi kraniofasial anomalilerle karakterize, nadir görülen ve iyi tanımlanmış bir sendromdur. Bazı olgularda klinik tabloya genital ve/veya gonadal bozukluklar, kardiyak anomaliler, endokrin ve metabolik bozukluklar eşlik edebilmektedir. Klinik tablonun değişkenlik göstermesi, genetik danışma açısından genotip-fenotip ilişkisinin kesinlik kazanmasını gerektirmektedir. Sunulan 14 aylık kız olgunun aile öyküsünde, opere izole sindaktilisi olan bir erkek kardeş dışında özellik bulunmamaktadır. Olguda, sendromun karakteristik kraniofasial dismorfik bulgularına ek olarak atrial septal defekt, patent foramen ovale, patent duktus arteriozus, pulmoner stenoz, sol ventrikül hipertrofisi ve umbilikal herni gibi konjenital anomaliler bulunmaktadır. Konvansiyonel sitogenetik analizle karyotip özelliği 46,XX,del(9)(p22) olarak saptanan olguda sonuç FISH analizi ile konfirme edilmiştir. Literatür bilgilerine göre olgudaki fenotipik özelliklere, delesyona uğrayan bölgede yer alan CER1, FOXD4, FOXP2 ve DOCK8 genlerinin kaybının neden olduğu düşünülmektedir.Publication A fertile patient with 45X/47XXX mosaicism(Medecine Et Hygiene, 2015-01-01) Şahintürk, Serdar; Sağ, Şebnem Özemri; Türe, Mehmet; Görükmez, Orhan; Topak, Ali; Yakut, T.; Gülten, T.; ŞAHİNTÜRK, SERDAR; ÖZEMRİ SAĞ, ŞEBNEM; Türe, Mehmet; Görükmez, Orhan; Topak, Ali; Yakut, T.; Gülten, T.; Uludağ Üniversitesi/Tıp Fakültesi/Genetik Bölümü; 0000-0002-9241-0896; ACQ-9887-2022; AAH-8355-2021; HNQ-2791-2023; ECY-8582-2022; FZW-2060-2022; GIS-1493-2022; EYU-9227-2022A fertile patient with 45X/47XXX mosaicism: Turner syndrome (TS) is a sex chromosome abnormality with a frequency of 1/2,000-3,000 among female live births. Characteristic findings are short stature and gonadal dysgenesis. Short and webbed neck, low posterior hairline, broad chest, widespread nipples, cubitus valgus, short 4th and 5th metacarpals, multiple pigmented nevi, primary amenorrhea, lack of secondary sexual characteristics, cardiovascular and renal anomalies are the most common presentations. Most of the cases are infertile. Spontaneous pregnancy is unusual and the risk for congenital anomaly, spontaneous abortion, stillbirth and aneuploidy is increased. Fifty percent of the patients have classical monosomy X (45,X). However mosaicism of 45,X/47,XXX is rare and accounts for 1.7% of the TS cases. Some cases may not reflect the characteristic phenotype. Some cases with normal height, normal menstrual cyclus and fertility have been defined before. The case we present herein is a 26 years old woman who was admitted to our clinic due to recurrent pregnancy loss. In her medical history she had type 1 diabetes mellitus and endometrium cancer, in her family history her mother had recurrent pregnancy loss. The patient's first, third, fourth, fifth and sixth pregnancies had resulted in spontaneous abortions in the first trimester. She had a healthy daughter with 46,XX karyotype from her second pregnancy. A 45,X[8]/47,XXX[12] karyotype was detected by conventional cytogenetic analysis of the patient who did not have dysmorphic findings. The mosaicism was confirmed by FISH analysis with CEP X probe. Of the 100 cells evaluated, 65 of them had 3 signals of X chromosome while 35 had 1 signal. We present the case because of its scarcity in the literature.Publication A novel mutation in the fras1 gene in a patient with fraser syndrome(Medecine Et Hygiene, 2015-01-01) Sağ, S. Özemri; Görukmez, O.; Türe, M.; Şahintürk, S.; Topak, A.; Gülten, T.; Schanze, D.; Yakut, T.; Zenker, M.; ÖZEMRİ SAĞ, ŞEBNEM; Görükmez, Orhan; Türe, Mehmet; ŞAHİNTÜRK, SERDAR; Topak, Ali; Gülten, Tuna; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 0000-0002-9241-0896; AAH-8355-2021; HNQ-2791-2023; ACQ-9887-2022; AFZ-0764-2022; ECY-8582-2022; EYU-9227-2022; GIS-1493-2022A novel mutation in the FRAS1 gene in a patient with Fraser syndrome: Fraser Syndrome (FS) is a rare disease with autosomal recessive inheritance characterized by cryptophthalmus, cutaneous syndactyly, laryngeal and urogenital anomalies. Mutations in the genes FRAS1 and FREM2 encoding components of a protein complex of the extracellular matrix, and recently also mutations in GRIP1 have been found to be causative for FS. We present here molecular and clinical findings of a patient with FS who was found to have a novel homozygous frameshift mutation c.9739delA, p.(T3247Pfs*44) in exon 63 of FRAS1 gene. Further testing confirmed the heterozygous carrier status of parents.Publication Angiotensin-converting enzyme gene insertion/deletion polymorphism in patients with pulmonary thromboembolism(Kamla-raj Enterprises, 2015-12-01) Yeşilkaya, Selma; Karkucak, Mutlu; Çoban, Hikmet; Ursavaş, Ahmet; Türe, Mehmet; Yakut, Tahsin; TÜRE, MEHMET; YAKUT, TAHSİN; ECY-8582-2022; GIS-1493-2022The aim of the present study is to investigate the relationship between angiotensin-converting enzyme (ACE) gene polymorphism and pulmonary embolism by comparing the frequency of ACE gene polymorphism between cases diagnosed with pulmonary embolism with that of the control group. The study included 73 patients and 73 healthy subjects as the control group. Isolated DNAs were genotyped using the polymerase chain reaction (PCR) method for the identification of the ACE insertion/deletion (1/D) polymorphism. The genotypes were determined according to the bands observed in the agarose gel electrophoresis. The frequency of ID genotype was 39.7 percent, the frequency of insertion/insertion (II) genotype was 17.8 percent, and the frequency of the deletion/deletion (DD) genotype was 42.5 percent in the patient group. In the control group, the frequency of the II genotype was 21.9 percent, the frequency of the ID genotype was 38.4 percent, and the frequency of the DD genotype was 39.7 percent. There were no statistically significant differences between the patient group and the control group in terms of the frequencies of II, 1D, and DD genotypes (p>. 0.05). The findings of the present study showed no association between ACE gene polymorphism and the risk of developing the pulmonary embolism. Due to the limited number of patients however, these results must be confirmed by further studies incorporating larger series of patients.Item Another small supernumerary marker chromosome derived from chromosome 9 in a Klinefelter patient(Univ West Indies Faculty Medical Sciences, 2012-12) Gülten, Tuna; Görükmez, Orhan; Karkucak, Mutlu; Türe, Mehmet; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 6505944216; 56681045900; 35388323500; 6602186133; 6602802424Marker chromosomes are very rare in Klinefelter patients and phenotypic findings are related to the affected chromosomal region. The phenotypic effects of small supernumerary marker chromosomes (sSMC) range from multiple malformations/mental retardation to no effect (le a normal phenotype). This wide spectrum of phenotypes is due to the origin, structure and gene content of the marker chromosome. The first Klinefelter case with sSMC 9 was published by Liehr et al in 2005. The present case was referred for chromosomal analysis because of dysmorphic features, speech delay and mild mental retardation. Conventional cytogenetic analysis revealed the 47 XXY karyotype in 17 metaphases and the 48 XXY + marker karyotype in eight metaphases. Fluorescence in situ hybridization (FISH) analysis to identify the marker chromosome was performed using the LSI p16 (9p21) Spectrum Orange/CEP 9 SpectrumGreen Probe (Vysis CDKN2A/CEP 9 FISH Probe) and partial trisomy 9 mosaicism was confirmed in this patient. To our knowledge, this is the second case of Klinefelter syndrome with a small supernumerary marker chromosome derived from chromosome 9.Item Association and prognostic significance of the functional-1562C/T polymorphism in the promoter region of MMP-9 in Turkish patients with gastric cancer(Frontiers Media, 2015-09-28) Avcı, Nilüfer; Çubukçu, Erdem; Ölmez, Ömer Fatih; Türe, Mehmet; Deligönül, Adem; Şahintürk, Serdar; Topak, Ali; Kurt, Ender; Evrensel, Türkkan; Şahin, Ahmet Bilgehan; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/İç Hastalıkları Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 0000-0002-7612-0055; 0000-0002-9732-5340; 0000-0002-7846-0870; ECY-8582-2022; ESM-4544-2022; ACQ-9887-2022; HOV-5404-2023; DAS-3088-2022; AAJ-1027-2021; AAM-4927-2020; GIS-1493-2022; 6602186133; 37088030300; 57214054591; 55313334700; 7006207332; 6603942124; 57188809248; 6602802424Matrix metalloproteinases (MMPs) are a group of zinc-dependent peptidases that participate in matrix turnover in solid malignancies. The aim of this study was twofold. First, we sought to investigate under a case-control design the association between the functional -1562C/T polymorphism in the promoter region of MMP-9 and gastric cancer (GC) in a Turkish sample. Second, we examined its prognostic significance in GC patients. A total of 144 subjects were enrolled in the case-control study (79 GC cases and 65 controls). Overall survival (OS) and progression-free survival (PFS) served as the main outcome measures in the longitudinal study. The MMP-9 -1562C/T polymorphism was genotyped using a polymerase chain reaction-restriction fragment length polymorphism method. The odds ratio (OR) of GC for the CC genotype relative to the CT+TT genotypes was not significant (OR = 0.89, 95 % confidence interval [CI] = 0.44-1.82, P = 0.75). These results did not change after allowance for age and sex in multivariable regression analysis (OR = 0.81, 95 % CI = 0.40-1.94, P = 0.84). When the MMP-9 -1562C/T polymorphism was analyzed among GC patients in relation to OS and PFS, we found no significant differences between subjects with the CC and CT+TT genotypes. In conclusion, the results of our study did not point toward a major role of the MMP-9 -1562C/T polymorphism in the pathogenesis and clinical course of GC in Turkish subjects.Publication Association of the ACE I/D Gene Polymorphisms with JAK2V617F-Positive Polycythemia Vera and Essential Thrombocythemia(Mary Ann Liebert, 2015-06-01) Görükmez, Orhan; Sağ, Şebnem Özemri; Görükmez, Özlem; Türe, Mehmet; Topak, Ali; Şahintürk, Serdar; Özkaya, Güven; Gülten, Tuna; Ali, Rıdvan; Yakut, Tahsin; ÖZEMRİ SAĞ, ŞEBNEM; Görükmez, Özlem; Türe, Mehmet; Topak, Ali; ŞAHİNTÜRK, SERDAR; ÖZKAYA, GÜVEN; Gülten, Tuna; ALİ, RIDVAN; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Biyoistatistik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/İç Hastalıkları Anabilim Dalı/Hematoloji Bilim Dalı.; 0000-0002-9241-0896; 0000-0003-0297-846X; IUN-6616-2023; ACQ-9887-2022; AAH-8355-2021; A-4421-2016; HNQ-2791-2023; ECY-8582-2022; EYU-9227-2022; GXD-8209-2022; GIS-1493-2022The renin-angiotensin system contributes to cell growth, proliferation, and differentiation in the bone marrow. We investigated the role of the ACE I/D gene polymorphism in 108 polycythemia vera (PV) and essential thrombocytosis (ET) patients who were positive for the JAK2V617F mutation, with a thrombosis group (TG) of 95 patients who had a history of vascular events, but did not have a history of myeloproliferative neoplasms and compared these to a healthy control group (CG) of 72 subjects. In the patients, II genotype and I allele frequency (p=0.009, odds ratio [OR]=9.716, 95% confidence interval [CI]=1.242-76.00, p=0.004, OR=2.019, 95% CI=1.243-3.280, respectively) were found to be higher than those in the controls. The DD genotype (p=0.021, OR=0.491, 95% CI=0.268-0.899) and D allele (p=0.004, OR=0.495, 95% CI=0.305-0.805) were found to be correlated with a decreased risk of a myeloproliferative neoplasm. These findings support the hypothesis that the ACE II genotype and I allele may be related to increased risk of ET and PV. Conversely, the DD genotype and D allele may be related to decreased risk of ET and PV. The results also indicated that the ACE I/D gene polymorphism was independent of thrombosis formation.Item Dyskeratosis congenita: A case report(Medecine et Hygiene, 2016) Görükmez, Özlem; Carrillo, Jaime; Perona, R.; Sağ, Şebnem Özemri; Topak, Ali; Türe, Mehmet; Şahintürk, Serdar; Gülten, Tuna; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 0000-0002-7612-0055; AAH-8355-2021; HOQ-5853-2023; ECY-8582-2022; ACQ-9887-2022; EYU-9227-2022; GIS-1493-2022; 57193738647; 55313334700; 6602186133; 57214054591; 6505944216; 6602802424Publication Genes that affect brain structure and function identified by rare variant analyses of mendelian neurologic disease(Cell Press, 2015-11-04) Karaca, Ender; Harel, Tamar; Pehlivan, Davut; Jhangiani, Shalini N.; Gambin, Tomasz; Akdemir, Zeynep Çoban; Gonzaga-Jauregui, Claudia; Erdin, Serkan; Bayram, Yavuz; Campbell, Ian M.; Hunter, Jill V.; Atik, Mehmed M.; Van Esch, Hilde; Yuan, Bo; Wiszniewski, Wojciech; Işıkay, Sedat; Yeşil, Gözde; Yüreğir, Özge O.; Bozdoğan, Sevcan Tug; Aslan, Hüseyin; Aydın, Hatip; Tos, Tülay; Aksoy, Ayşe; De Vivo, Darryl C.; Jain, Preti; Geçkinli, B. Bilge; Sezer, Özlem; Gül, Davut; Durmaz, Burak; Cogulu, Özgür; Özkinay, Ferda; Topcu, Vehap; Candan, Sükrü; Cebi, Alper Han; İkbal, Mevlit; Güleç, Elif Yılmaz; Gezdirici, Alper; Koparır, Erkan; Ekici, Fatma; Coşkun, Salih; Çiçek, Salih; Karaer, Kadri; Koparır, Asuman; Düz, Mehmet Buğrahan; Kırat, Emre; Fenercioğlu, Elif; Ulucan, Hakan; Seven, Mehmet; Güran, Tülay; Elçioğlu, Nursel; Yıldırım, Mahmut Selman; Aktaş, Dilek; Alikaşifoğlu, Mehmet; Türe, Mehmet; Yakut, Tahsin; Overton, John D.; Yüksel, Adnan; Özen, Mustafa; Muzny, Donna M.; Adams, David R.; Boerwinkle, Eric; Chung, Wendy K.; Gibbs, Richard A.; Lupski, James R.; Türe, Mehmet; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; ECY-8582-2022; GIS-1493-2022Development of the human nervous system involves complex interactions among fundamental cellular processes and requires a multitude of genes, many of which remain to be associated with human disease. We applied whole exome sequencing to 128 mostly consanguineous families with neurogenetic disorders that often included brain malformations. Rare variant analyses for both single nucleotide variant (SNV) and copy number variant (CNV) alleles allowed for identification of 45 novel variants in 43 known disease genes, 41 candidate genes, and CNVs in 10 families, with an overall potential molecular cause identified in >85% of families studied. Among the candidate genes identified, we found PRUNE, VARS, and DHX37 in multiple families and homozygous loss-of-function variants in AGBL2, SLC18A2, SMARCA1, UBQLN1, and CPLX1. Neuroimaging and in silico analysis of functional and expression proximity between candidate and known disease genes allowed for further understanding of genetic networks underlying specific types of brain malformations.Item GST (GSTM1, GSTT1, and GSTP1) polymorphisms in the genetic susceptibility of Turkish patients to cervical cancer(Korean Soc Gynecology Oncology & Colposcopy, 2010-09) Kıran, Beray; Karkucak, Mutlu; Ozan, Hakan; Yakut, Tahsin; Özerkan, Kemal; Sağ, Şebnem Özemri; Türe, Mehmet; Uludağ Üniversitesi/Tıp Fakültesi/Kadın Hastalıkları ve Doğum Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; AAH-9791-2021; 36637703500; 35388323500; 7003908072; 6602802424; 6603345841; 36638231300; 6602186133Objective: This work investigates the role of glutathione S-transferase M1 (GSTM1), glutathione S-transferase T1 (GSTT1), and glutathione S-transferase P1 (GSTP1) enzymes and polymorphisms, which are found in phase II detoxification reactions in the development of cervical cancer. Methods: This study was conducted with 46 patients diagnosed with cervical cancer and 52 people with no cancer history. Multiplex PCR methods were used to evaluate the GSTM1 and GSTT1 gene polymorphism. However, the GSTP1 (Ile105Val) gene polymorphism was studied using a PCR-RFLP method. The patient and control groups were compared using a chi-square test with p<0.05. Results: In the patient group, statistical significance was determined for gravidity (p=0.03), parity (p=0.01), and the number of living children (p=0.01) compared to the control group. The gene frequency of GSTM1, GSTT1, and GSTP1 polymorphisms was evaluated. We observed that GSTM1 and GSTT1 null genotype frequencies were 54.3% and 32.6% respectively, while GSTP1 (Ile/Val), (Ile/Ile), (Val/Val) genotype frequencies were 52%, 44%, and 4%, respectively, in the cervical cancer patients. No statistical variation was determined between the control and patient groups in terms of GSTM1, GSTT1, and GSTP1 polymorphisms (p>0.05). Conclusion: Our results demonstrate that GSTT1, GSTM1, and GSTP1 polymorphisms are not associated with cervical cancer in Turkish patients.Item Immunohistochemical expression of human epidermal growth factor receptor (HER)-4 and prognosis in patients with metastatic breast cancer(Imprimatur Publications, 2016) Deligönül, Adem; Evrensel, Türkkan; Avcı, Nilüfer; Uğraş, Nesrin; Türe, Mehmet; Çubukçu, Erdem; Hartavi, Mustafa; Ölmez, Ömer Fatih; Kurt, Ender; Tolunay, Şahsine; Kanat, Özkan; Manavoğlu, Osman; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Onkoloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Patoloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/İç Hastalıkları Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 0000-0002-9732-5340; 0000-0002-5771-7649; ESM-4544-2022; AAJ-1027-2021; CCT-7946-2022; AAH-2716-2021; ECY-8582-2022; ETP-1691-2022; CUI-5353-2022; DJG-4827-2022; DAS-3088-2022; AAI-1612-2021; CYM-0930-2022; FLP-9613-2022; 37088030300; 6603942124; 55390409800; 55386535600; 6602186133; 53986153800; 55370753300; 26435400000; 7006207332; 6602604390; 55881548500; 6602587152Purpose: The clinical value of HER4 - a cell surface receptor that belongs to the human epidermal growth factor receptor family - for predicting survival outcomes in patients with breast cancer remains controversial. Herein, we sought to investigate the prognostic significance of HER4 immunohistochemical expression with respect to progression-free survival (PFS) and overall survival (OS) in Turkish patients with metastatic breast cancer (MBC).Methods: MBC patients (N=45; mean age=50.5 +/- 12.7 years) were consecutively enrolled between 2000 and 2006 in the Department of Oncology at the Uludag University Medical Center, Bursa, Turkey. Immunohistochemistry was performed on formalin-fixed, paraffin-embedded sections. The predictive value of HER4 expression was investigated by multivariate analysis after allowance for potential confounders.Results: The mean PFS in the study participants was 11.35 months (range:1-50), whereas the median OS was 22.18 months (range:1-76). The mean PFS in patients with a HER4 immunohistochemical score of 0, 1+, 2+, and 3+ was 11.0 +/- 4.8, 11.3 +/- 7.7, 11.7 +/- 8.1, and 10.4 +/- 7.4 months, respectively (p=0.99). The mean OS in patients with a HER4 score of 0, 1+, 2+, and 3+ was 13.3 +/- 6.8, 25.6 +/- 10.8, 22.9 +/- 10.7, and 13.5 +/- 9.9, months, respectively (p=0.44). The results of multivariate Cox regression analysis indicated that the presence of visceral metastases was the only independent prognostic factor for both OS (HR=3.01, 95% CI=1.56-3.99, p <0.01) and PFS (HR=2.91, 95% CI=1.51-3.78, p <0.01).Conclusion: HER4 immunohistochemical expression is not an independent predictor of OS and PFS in Turkish MBC patients.Publication Investigation of FGFR4 (Gly388Arg) gene Polymorphism in primary lung cancer Patients(Kamla-Raj Enterprises, 2015-03-01) Türe, Mehmet; Yakut, Tahsin; Deligönül, Adem; Karkucak, Mutlu; Sağ, Şebnem Özemri; Hartavi, Mustafa; Çubukcu, Erdem; Gülten, Tuna; Evrensel, Türkkan; Türe, Mehmet; Yakut, Tahsin; DELİGÖNÜL, ADEM; ÖZEMRİ SAĞ, ŞEBNEM; Hartavi, Mustafa; ÇUBUKÇU, ERDEM; Gülten, Tuna; EVRENSEL, TÜRKKAN; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Onkoloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/İç Hastalıkları Anabilim Dalı.; 0000-0002-9732-5340; AAJ-1027-2021; AAH-8355-2021; ECY-8582-2022; GIS-1493-2022; ESM-4544-2022; CUI-5353-2022; ETP-1691-2022; EYU-9227-2022Several studies have shown relationships between predisposition to various types of cancer and polymorphisms of the fibroblast growth factor receptor 4 (FGFR4) gene. In the present study, researchers investigated the relationship between primary lung cancer and (PLC) FGFR4 Gly388Arg polymorphism in regard to tendency, histopathologic sub-type, early onset, and metastatic status. The present study included 124 PLC patients and 100 healthy controls. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to identify gene polymorphism of FGFR4 Gly388Arg. Statistical significance was considered when p < 0.05, and a statistically significant difference was not found in FGFR-4 polymorphism between the patient group and control group in regard to tendency, histopathologic sub-type, early onset, and metastatic status (p > 0.05). The findings in this study demonstrated that there was no relationship between polymorphism of FGFR4 Gly388Arg gene and PLC. However, these results should be confirmed in larger studies and in specific histopathological sub-types of PLC.Item Investigation of MEFV gene polymorphisms (G138G and A165A) in adult patients with familial mediterranean fever(Elsevier, 2015-09-25) Karkucak, Mutlu; Görükmez, Orhan; Öksuz, Mustafa Ferhat; Ocakoğlu, Gökhan; Yıldız, Abdulmecit; Türe, Mehmet; Yakut, Tahsin; Kamil, Dilek; Uludağ Üniversitesi/Tıp Fakültesi/Dahiliye Anabilim Dalı/Romatoloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Biyoistatistik Anabilim Dalı.; Uludağ Üniversitesi/Fen-Edebiyat Fakültesi/Dahiliye Anabilim Dalı/Nefroloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; AAH-5180-2021; 56016440100; 15832295800; 56256977500; 6602186133; 6602802424; 56005080200Aim: Various mutations have been identified in the Mediterranean fever (MEFV) gene which is reported to be responsible from Familial Mediterranean fever (FMF). In our study, we aimed to determine the frequency of the MEFV mutations in our region and to investigate the impact of G138G (rs224224, c.414A>G) and A165A (rs224223, c.495C>A) gene polymorphisms on the clinical findings of the disease. Methods: One hundred and sixteen patients diagnosed with FMF and 95 control subjects were included in this study. We used the DNA sequence analysis method to identify the most prevailing 10 mutations located in exon 2 and 10 of MEFV gene. Results: As a result of the MEFV mutation analysis, the most common mutation was the M694V mutation allele with a frequency rate of 41.8%. When the patients group and control group were compared in terms of frequency of both polymorphic alleles (G polymorphic allele, observed in G138G and the A polymorphic allele, observed in A165A), the variation was observed to be statistically significant (p <0.001). It was found that the MEFV mutation types have no relation with clinical findings and amyloidosis (p > 0.05). Conclusions: To our knowledge, our study is the first study in the Southern Marmara region that reports the frequency of MEFV mutations. Our findings imply that the polymorphisms of G138G and A165A may have an impact on progress of the disease. We think that more studies, having higher number of cases and investigating the polymorphisms of MEFV gene, are needed.Publication Investigation of tnf-alpha gene (g308a) and gstp1 gene (ile105val) polymorphisms in Turkish patients with retinopathy of prematurity(Tubitak Scientific & Technological Research Council Turkey, 2015-01-01) Karkucak, Mutlu; Türe, Mehmet; Yıldız, Meral; ÖZMEN, AHMET TUNCER; YILDIZ, MERAL; Gülten, Emine Tuna; Sığırlı, Deniz; SIĞIRLI, DENİZ; Özmen, Ahmet Tuncer; Yakut, Tahsin; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Genetik Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Oftalmoloji Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Biyoistatistik Anabilim Dalı.; AAH-1885-2021; AAA-7472-2021Background/aim: Retinopathy of prematurity (ROP) is one of the most frequent causes of blindness in newborn babies. Currently, its etiology is not fully understood. In this study we aimed to investigate the correlation between a patient group with ROP and a control group in terms of the tumor necrosis factor- alpha (TNF-alpha) (G308A) gene and glutathione-S-transferase P1 (GSTP1) (Ile105Val) gene polymorphism.Materials and methods: Sixty-two patients diagnosed with ROP and 58 control subjects were included in this study. For TNF-alpha (G308A) gene and GSTP1 (Ile105Val) gene polymorphisms, the polymerase chain reaction- restriction fragment length polymorphism method was used. In statistical analysis the significance level was determined as P < 0.05.Results: When the patient and control groups were compared in terms of TNF-alpha (G308A) gene and GSTP1 (Ile105Val) gene polymorphisms, no statistically significant difference was found (P > 0.05).Conclusion: In our study, no correlation was identified between TNF-alpha (G308A) gene and GSTP1 (Ile105Val) gene polymorphisms and susceptibility for development of ROP. Further studies are required with more cases of ROP patients and other gene polymorphisms that could be related.Item Koroner bypass cerrahisi uygulanan hastalarda oral allopurinolün miyokardın korunmasına ve klinik seyire etkisi(Uludağ Üniversitesi, 1995) Türe, Mehmet; Uludağ Üniversitesi/Tıp Fakültesi/Göğüs-Kalp ve Damar Cerrahisi Anabilim Dalı.İskemik miyokardı reperfüze etmek için uygulanan trombolitik ve anjioplastik yöntemlerin gelişmesi, kardiyak cerrahinin ilerlemesi ve anstabil anjina gibi birçok klinik durumda karşımıza çıkması nedeniyle reperfüzyon hasarına ilgi, gün geçtikçe artmıştır. Reperfüzyon hasarının en sık rastlanan örneği, "myocardial stunning" olarak tanımlanan, iskemi sonrası ve reperfüzyonu takiben ortaya çıkan, tamamen geriye dönebilir doğasına rağmen riskli hastalarda morbidite ve mortaliteyi artıran olgudur. Bu duruma yol açan mekanizmalar; hücre içi yüksek enerjili fosfatların azalması, sitotoksik oksijen kökenli serbest radikallerin oluşumu, normalde oluşan radikalleri yok eden enzim sistemlerinin azalması ve işlevini yitirmesi, radikallerin peroksidasyon yoluyla membran bütünlüğünü bozarak kalsiyum homeostazında değişikliklere yol açması ve reperfüze edilen alanda mikrosirkülasyonun azalmasıdır. Bunlar arasında en önemlileri serbest oksijen radikalleriyle oluşan hasar ve kalsiyum homeostazındaki değişikliklerdir. Postiskemik kontraktilite bozukluğunu iyileştirmek ya da önlemek amacıyla, birçok yöntem ve ajan denenmiştir.-44- Allopurinol radikal üretiminde yer alan ksantin oksidaz enziminin bir inhibitörü olup, birçok deneysel çalışmada kullanılmış ve faydalı etkileri görülmüştür. Ancak, klinik çalışmalar azdır. Biz de çalışmamızda, 15'i kontrol, 15'i de çalışma grubu olmak üzere elektif koroner "bypass" cerrahisi uygulanacak 30 hastayı kullandık. Çalışma grubuna ameliyat öncesindeki akşam 600 mg ve ameliyat sabahı 600 mg olmak üzere 1200 mg oral yoldan allopurinol verildi. İlacın etkinliği, hasta pompadan çıktıktan sonra 24 saat süreyle yapılan kardiyak indeks ve LVSWI ölçümleriyle kontrol edildi. Ayrıca "crossclamp"in alınmasından itibaren 5 gün süreyle CPK-MB, AST ve LDH düzeylerine bakıldı. Klinik izlemde de gerek perioperatif, gerekse postoperatif dönemde inotrop gereksinimi, aritmi oluşumu gibi kriterler gözönüne alındı. Sonuç olarak, sol ventrikül işlevlerinde, kontrol grubuna kıyasla daha iyi bir performans, aritmi oluşumunda belirgin azalma ve inotrop gereksiniminde düşüş saptandı. CPK-MB değerlerinde anlamlı olmamakla birlikte bir düşüş ve LDH seviyelerinde bazı saatlerde belirgin azalma saptandı. AST değerleri iki grup arasında fark göstermedi. Diğer yapılan bazı çalışmaları ve kendi çalışmamızı da gözönünde bulundurarak allopurinolün, açık kalp cerrahisinde ve anjioplasti ile trombolitik tedavi girişimlerinde kullanılmasını önermekteyiz.Item De novo partial trisomy distal 4q: A case report(Medecine Et Hygiene, 2014) Görükmez, Özlem; Özemri Sağ, Şebnem; Görükmez, Orhan; Türe, Mehmet; Gülten, Tuna; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; AAH-8355-2021; 56527147900; 56681045900; 6602186133; 6505944216; 6602802424De novo partial trisomy distal 4q: a case report: We present a case of de novo distal partial trisomy 4q with firstly described chronic cholecystitis, rarely seen hypothyroidism, and bilateral membranous choanal atresia. The patient, a 10-month-old baby girl had dysmorphic facial features as well as neuromotor retardation, congenital hypothyroidism, atrial septal defect (ASD), white matter atrophy in cranial MRI, grade 2 dilatation in pelvicalyceal system of the left kidney, and bilateral ureteral reflux. In peripheral blood chromosome analysis 46, XX, dup(4) (q21q35) karyotype was detected. In FISH analysis using 4p/4q subtelomeric probe; 3 signals for 4 q region and 2 signals for 4p region were observed. In chromosome analyses of her healthy parents, no anomaly was detected. Herein we present a case of de novo partial distal trisomy 4q syndrome to contribute to the literature since it is rarely seen and this is the first patient with partial trisomy distal 4q syndrome presented with chronic cholecystitis and the second patient with hypothyroidism.Item Prenatal mozaik trizomi 17’li yeni bir olgu(Uludağ Üniversitesi, 2013-07-25) Şahintürk, Serdar; Türe, Mehmet; Gülten, Tuna; Küçükkömürcü, Şakir; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Kadın Hastalıkları ve Doğum Anabilim Dalı.Mozaik trizomi 17 nadir görülen otozomal trizomilerden olup literatürde sadece 30 olguda bildirilmiştir. Olguların büyük çoğunluğu “chori onic villus sampling” (CVS) ve amniyosentez materyallerinden yapılan prenatal genetik analizlerde saptanmış olup klinik bulgular son derece değişkendir. Burada sunduğumuz olgunun prenatal dönemde ultrasonografik takibinde lateral ventriküllerde sınırda ventrikülomegali saptandı ve amniyosentez yapıldı. Sitogenetik analiz ile karyotip 47,XX,+17[5]/46,XX[35] olarak saptandı. Yapılan FISH analizi ile mozaik trizomi 17 karyotip bulgusu doğrulandı (nuc ish(RARA×3,PML×2)[30/100], (TP53×3)[35/100]). Termde spontan vajinal yolla doğan olgu nun fizik muayenesinde ve transfontanel ultrasonografisinde herhangi bir dismorfik bulgu ya da konjenital anomali saptanmadı. Periferik kandan postnatal olarak yapılan kromozom analizinde karyotip 46,XX olarak saptandı. Periferik kandan ve yanak mukozasından lokus spesifik problar ile yapılan FISH analizinde de mozaisizm saptanmadı (nuc ish(RARA,PML)×2[200],(TP53×2)[200]). Prenatal tanıda nadir görülen mozaik trizomi 17 saptanan olgumuz, ileride karşılaşılabilecek benzer olgularda ailelere verilecek genetik danışmanlık açısından katkı sağlayacaktır.Item Primer akciğer kanserli hastalarda FGFR4 (GLY388ARG) Gen polimorfizminin araştırılması(Uludağ Üniversitesi, 2011) Türe, Mehmet; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.Bazı kanser türlerinde yatkınlık ile fibroblast büyüme faktörü reseptörü-4 (FGFR-4) genin polimorfizmleri arasında ilişkiyi gösteren çalışmalar vardır. Bu çalışmada, primer akciğer kanseri (PAK) gelişimin ile FGFR-4 (Gly388Arg) gen polimorfizmi arasındaki ilişkiyi araştırmayı amaçladık.Çalışmamıza PAK tanısı almış 124 hasta ve herhangi bir kanser hikayesi olmayan 100 kişi alındı. FGFR-4 (Gly388Arg) gen polimorfizmi analizi için polimeraz zincir reaksiyonu-restriksiyon fragment uzunluk polimorfizmi (polymerase chain reaction-restriction fragment length polymorphism=PCR-RFLP) yöntemi uygulandı. Agaroz jeldeki bantlara göre genotipler belirlendi. İstatistiksel analizde p<0.05 değeri anlamlı olarak kabul edildi. FGFR-4 Arg allelinin sıklığı, PAK hastalarında %27,8 oranında kontrol olgularında ise %29 oranında bulundu. Hasta ve kontrol grubu arasında FGFR-4 polimorfizmi için istatistiksel olarak anlamlı bir fark saptanmadı (p>0.05).Bulgularımız FGFR-4 (Gly388Arg) gen polimorfizmi ile PAK arasında bir ilişki olmadığını göstermiştir. Bununla birlikte daha geniş olgu serilerinde bu sonuçlar desteklenmelidir.Publication Qualitative and quantitative evaluation of the BCR-ABL fusion gene in chronic Myelogenous Leukemia by flourescence in situ hybridization and molecular genetic methods(Mary Ann Liebert, 2015-10-01) Sağ, Şebnem Özemri; Yakut, Tahsin; Görükmez, Özlem; Görükmez, Orhan; Türe, Mehmet; Karkucak, Mutlu; Gülten, Tuna; Ali, Rıdvan; ÖZEMRİ SAĞ, ŞEBNEM; Yakut, Tahsin; Türe, Mehmet; Gülten, Tuna; ALİ, RIDVAN; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/İç Hastalıkları Anabilim Dalı/Hematoloji Bilim Dalı.; AAH-8355-2021; GIS-1493-2022; ECY-8582-2022; EYU-9227-2022; GXD-8209-2022Aims: Fluorescence in situ hybridization (FISH) and quantitative real-time polymerase chain reaction (QRT-PCR) were used to diagnose or screen for minimal residual disease (MRD) in Philadelphia (Ph) chromosome-positive leukemia. We compared the diagnostic utility of FISH and QRT-PCR at various time points in the course of chronic myelogenous leukemia (CML) and to determine the mean initial values for patients whose QRT-PCR results were not known at the time of diagnosis. Results: We analyzed 135 results for 78 CML patients tested by FISH and QRT-PCR for the Ph chromosomal translocation. All newly diagnosed cases were positive by both methods. On follow-up following treatment, 1 case was FISH positive and QRT-PCR negative; 61 cases were FISH negative and QRT-PCR positive. Overall concordance was 54.1%. There was good concordance between QRT-PCR results and cytogenetic response categories. Conclusions: We confirmed that QRT-PCR allows precise measurement of low levels of BCR-ABL transcripts and can serve as a sensitive indicator of MRD. We also demonstrated 100% correlation between QRT-PCR and FISH in newly diagnosed CML.Item Spectrum of EGFR gene mutations and ALK rearrangements in lung cancer patients in Turkey(Springer, 2016-04-12) Görükmez, Özlem; Görükmez, Orhan; Sağ, Şebnem Özemri; Türe, Mehmet; Deligönül, Adem; Şahintürk, Serdar; Topak, Ali; Gülten, Tuna; Kurt, Ender; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi//Tıbbi Genetik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Dahiliye Anabilim Dalı/Tıbbi Onkoloji Bilim Dalı.; HNQ-2791-2023; AAH-8355-2021; 36638231300; 6602186133; 37088030300; 57214054591; 55313334700; 6505944216; 7006207332; 6602802424The EGFR gene and ALK rearrangements are two genetic drivers of non-small cell lung cancer (NSCLC). The frequency of EGFR mutations and ALK rearrangement varies according to not only ethnicity but also gender, smoking status and the histological type of NSCLC. In the present study, we demonstrated the distribution of EGFR mutations in 132 NSCLC patients by using a pyrosequencing technique and the distribution of ALK rearrangements in 51 NSCLC patients by using fluorescent in situ hybridization technique in Turkey. Additionally, we compared the clinicopathological data of NSCLC patients with the mutation status of EGFR in their cancerous tissues. Both EGFR mutations and ALK rearrangements were identified in 19 (14.39 %) and 1 (1.96 %) patients, respectively. We found EGFR mutations in codon 861, 719 and 858 with the ratios of 10.52 % (2/19), 10.52 % (2/19) and 31.58 % (6/19), respectively, and deletion of exon 19 in 47.37 % (9/19) of the patients. We found the frequency of EGFR mutations to be significantly higher in female patients and nonsmokers (p = 0.043, p = 0.027, respectively). Consequently, we found EGFR mutations to be more frequent in female patients and nonsmokers. Future studies on larger patient groups would provide more accurate data to exhibit the relationship between EGFR mutations and ALK rearrangements and the clinicopathological status.