Browsing by Author "Yakut, Tahsin"
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Item 5′ MLL gene deletion in a case with childhood acute lymphoblastic leukemia(Oxford University, 2010-02) Gülten, Tuna; Yakut, Tahsin; Güneş, Adalet Meral; Demirkaya, Metin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.; 6505944216; 6602802424; 24072843300; 24331130000Myeloid/lymphoid leukemia (MLL) gene rearrangements are high risk cytogenetic characteristics of acute lymphoblastic leukemia (ALL). Translocations of this gene are well defined, and their impact on the patient's prognosis is well known, but deletions of the same region are rare, and little is known about their prognostic significance and the significance of their accompanying translocations. Here we present a case of childhood ALL with a deletion of the 5' region of the MILL gene detected by fluorescence in situ hybridization (FISH) analysis, This result also confirmed the sensitivity and efficiency of FISH analysis.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 novel mutation in NPR2 gene in a patient with acromesomelic dysplasia, maroteaux type(Medecine Et Hygiene, 2015-01-01) Sağ, S. Özemri; Görükmez, O.; Topak, A.; Görükmez, O.; Türe, M.; Şahintürk, S.; Gülten, T.; Yakut, T.; ÖZEMRİ SAĞ, ŞEBNEM; Görükmez, Orhan; ŞAHİNTÜRK, SERDAR; Topak, Ali; Ture, Mehmet; Gulten, Tuna; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 0000-0002-9241-0896; 0000-0002-9241-0896; HNQ-2791-2023; AAH-8355-2021; ACQ-9887-2022; AFZ-0764-2022; ECY-8582-2022; EYU-9227-2022; GIS-1493-2022A novel mutation in NPR2 gene in a patient with acromesomelic dysplasia, Maroteaux type: Acromesomelic dysplasia, Maroteaux type (AMDM) is a rare autosomal recessive disease characterized by disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of appendicular skeleton. Furthermore it is related to axial skeleton and leads to wedging of vertebral bodies, with shorter dorsal margins than the ventral margins. Bartels et al. defined mutations in NPR2 gene, encoding natriuretic peptide receptor B (NPR-B), underlying Acromesomelic dysplasia, type Maroteaux. We present here molecular and clinical findings of a case with AMDM. In a patient, a novel homozygous mutation c.1435C>T p.R479X in exon 7 of NPR2 gene was found. Further testing confirmed the heterozygous carrier status of the parents. Our findings expand the spectrum of causative mutations in AMDM.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 Ace gene i/d polymorphism and risk of sarcoidosis development in Turkish patients(Turkish Assoc Tuberculosis & Thorax, 2012-01-01) Yılmaz, Dilber; Karkucak, Mutlu; Coşkun, Funda; COŞKUN, NECMİYE FUNDA; Yakut, Tahsin; Uzaslan, Esra Kunt; UZASLAN, AYŞE ESRA; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Göğüs Hastalıkları Anabilim Dalı.; 0000-0003-3604-8826; AAD-1271-2019; AAI-1004-2021; ABI-5648-2022Introduction: Etiology of sarcoidosis is unknown but the prevalence of disease in different ethnic groups and identical twins, family characteristics indicate that genetic predisposition is a possible factor. The angiotensin-converting enzyme (ACE) has been implicated in the pahophysiology of sarcoidosis. The aim of this study is to investigate the influence of a polymorphism in I/D (Insertion/Deletion) of the ACE gene on the susceptibility to sarcoidosis.Patients and Methods: Our study included 70 Turkish patients who had histopathological diagnosis of sarcoidosis and 69 healthy age and sex matched control subjects. Polymerase chain reaction was used for analysing an I/D polymorphism in the gene coding for ACE. Genotyping was done according to bands that were formed on the agarose gel electrophoresis. Chi-square test was used for statistical analysis and p<0.05 was accepted as significance.Results: Although the D allele was more frequent in the sarcoidosis patients group, the frequency of the D allele was 67% and 54% respectively in the sarcoidosis and the control group. No significant difference in allele frequencies of I/I, I/D, D/D polymorphisms was observed between the sarcoidosis and control group (p> 0.05). Similarly allele frequencies of I/I, I/D, D/D polymorphisms was not different between sarcoidosis patients with extrapulmonary involvement and sarcoidosis patients without extrapulmonary involvement (p> 0.05).Conclusion: Our findings have showed that contribution of ACE gene polymorphisms to susceptibility of disease development in Turkish sarcoidosis patients is not different from the healthy control subjects.Item Akciğer tümörlerinde ve tümör cerrahi sınırındaki histopatolojik normal dokularda p53 ve c-myc genlerinin karsinogenik süreçteki rollerinin FISH yöntemiyle araştırılması(Uludağ Üniversitesi, 2002-11-14) Yakut, Tahsin; Egeli, Ünal; Uludağ Üniversitesi/Sağlık Bilimleri Enstitüsü/Tıbbi Biyoloji Anabilim Dalı.Çalışmamızda radyoterapi ve kemoterapi almamış olan 53 akciğer kanserli hastanın primer tümör dokuları ve tümör dokularına komşu cerrahi sınır dokularındaki genetik değişiklikler, p53 tümör supressör genine ve c-myc onkogenine özgü problar ve bu genlerin üzerinde bulunduğu 17. ve 8. kromozomların sentromerik bölgelerine özgü problarla FISH yöntemi kullanılarak araştırıldı. 53 vakanın 5 1 'ini Küçük hücreli olmayan akciğer kanseri (KHOAK), 2'sini Küçük hücreli akciğer kanseri (KHAK) tümör dokuları oluşturmaktaydı. KHOAK'li 51 vakanın tümör dokularından, yedisinde p53 delesyonu, dördünde c-myc amplifikasyonu, ikisinde monozomi 17, üçünde ise trizomi 8 saptandı, altı vakanın tümör dokusundaysa yüksek oranda poliploidi mevcuttu. KHAK'li iki vakanın tümör dokularından birinde c-myc amplifikasyonu saptandı. 17. ve 8. kromozomun total kayıp yada fazlalıkları ve poliploidiler açısından bakıldığında akciğer tümörlerindeki genetik değişiklikler hem kalitatif hem de kantitatif olarak oldukça heterojenite göstermekteydi. Cerrahi sınır dokularında; iki vakada p53 delesyonu bir vakadaysa c-myc amplifikasyonu saptandı; bu vakalardan bir tanesinde metastaz, diğerinde metastazla birlikte rekürrens, hemde kısa yaşam süresi olması, cerrahi sınır dokularındaki değişikliklerin hastalığın seyri bakımından anlamlı bir bulgu olabileceğini göstermekteydi Gerek p53 delesyonu gerekse c-myc amplifikasyonlarının cerrahi sınır dokularında düşük oranda da olsa saptanmış olması, hastalığın rekürrens ve metastaz açısından takibinde önemli olduğu gibi patolojik evreleme yanında genetik evreleme yapılmasının da önemini işaret etmekteydi P53 delesyonunun düşük evreli vakalarda da görülmesi ve cerrahi sınır dokularında p53 delesyonunun (2/7), c-myc amplifikasyonuna göre (1/5) biraz daha fâzla oranda saptanması p53 patolojilerinin c-myc'ye göre daha erken evrelerde görüldüğü konusunda fikir vermekteydi. Yine çalışmamızın sonuçlan, c-myc amplifikasyonunun akciğer kanserli hastaların yaşam süresini kısaltması yönünde diğer tüm patolojilere oranla çok daha yüksek oranlarda etki sağladığım gösterdi (P<0.01).Item AML1 amplification and 17q25 deletion in a case of childhood acute lymphoblastic leukemia(Wiley, 2009) Gülten, Tuna; Yakut, Tahsin; Karkucak, Mutlu; Baytan, Birol; Güneş, Adalet Meral; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Hematoloji Anabilim Dalı.; 6505944216; 6602802424; 35388323500; 6506622162; 24072843300We report a case of childhood acute lymphoblastic leukemia (ALL) with both acute myeloid leukemia 1 (AML1) amplification and 17q25 deletion. AML1 gene is located on 21q22 and encodes a transcription factor. AML1 amplification is a common finding in childhood ALL, and itis observed as an increase in gene copy number by the FISH analysis. The mechanism of AML1 amplification is not associated with AML1 gene mutations. The 17q25 is a gene-rich chromosomal location and distinct abnormalities of this region have been observed in previous cases of different kinds of leukemia. Deletion of the 17q25 region has been reported in two leukemia patients. Septin 9 (SEPT9) and survivin genes are located on 17q25. High expression of these genes and AML1 amplification are regarded as markers in tumorigenesis and disease progression; however, more data are needed for accurate prognostic evaluation.Item Analysis of TNF-alpha G308A and C857T gene polymorphisms in Turkish patients with obstructive sleep apnea syndrome(Ortadogu Yayınevi, 2012-10) Karkucak, Mutlu; Ursavaş, Ahmet; Ocakoğlu, Gökhan; Görükmez, Orhan; Yakut, Tahsin; Ercan, İlker; Karadağ, Mehmet; Uludağ Üniversitesi/Tıp Fakültesi/Göğüs Hastalıkları Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Biyoistatistik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 0000-0002-9027-1132; 0000-0002-2382-290X; AAG-8744-2021; AAI-3169-2021; AAH-5180-2021; 8329319900; 15832295800; 56681045900; 6602802424; 6603789069; 6601970351Objective: Tumor necrosis factor-alpha (TNF-alpha) is an important indicator of inflammation. Recent studies have demonstrated a relationship between inflammation and obstructive sleep apnea syndrome (OSAS). The aim of this study was to investigate the association between TNF-alpha G308A and C857T gene polymorphisms and OSAS in Turkish patients. Material and Methods: Sixty-nine patients who were diagnosed with OSAS and 42 control subjects were included in the study. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to detect TNF-alpha G308A and C857T gene polymorphisms. The level of significance for statistical analysis was set at p<0.05. Results: The distribution of genotypes was not significantly different between subjects with a definite diagnosis of OSAS and the control group (p> 0.05). However, the mean body mass index of the OSAS group was significantly different from that of the control group (p<0.05). Conclusion: To our knowledge, this study is the first to analyze the relationship between OSAS and INF-alpha G308A and C857T gene polymorphisms in Turkish patients. Our results do not support an association between OSAS and TNF-alpha G308A and C857T gene polymorphisms.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 Are there interchromosomal effects of chromosomal rearrangements on occurrence of aneuploidy in sperm nuclei of carriers?(Springernature, 2002-05) Acar, Hasan; Yakut, Tahsin; Cora, Tülin; Kaynak, M. Fırat; Yıldırım, S.; Egeli, Ünal; Uludağ Üniversitesi/Tıp Fakültesi/Genetik ve Moleküler Biyoloji Anabilim Dalı.Item Assessment of molecular events in squamous and non-squamous cell lung carcinoma(Elsevier Ireland, 2006) Schulten, Hans-Jürgen; Demir, Adalet; Frank, Derk; Danner, Bernd; Kahler, Elke; Gunawan, Bastian; Ürer, Nur; Fuezesi, Laszlo; Yakut, Tahsin; Egeli, Ünal; Gebitekin, Cengiz; Öztürk, Hülya; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Göğüs Cerrahisi Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Patoloji Anabilim Dalı.; 0000-0001-7904-883X; AAH-1420-2021Although considerable knowledge exists on the tumor biology of lung cancer, there is still a need to assess molecular events for the clinical management of the disease. We studied the pattern of chromosomal imbalances in 45 non-small cell Lung carcinomas (NSCLC) by comparative genomic hybridization (CGH) and correlated the results with clinicopathological features including immunohistochemical (IHC) expression of the epidermal. growth factor receptor (EGFR). Twenty-one tumors were squamous cell carcinomas (SCC) and 24 non-squamous cell lung carcinomas (NSCC) comprising 9 adenocarcinomas (ADC), 9 large cell carcinomas (LCC), 4 sarcomatoid carcinomas and 2 adenosquamous carcinomas. The mean number of individual imbalances was 7.1 for SCC (mean gains, 3.8; mean tosses, 3.4) and 6.4 for NSCC (mean gains, 4.5; mean tosses, 1.9). Several individual imbalances correlated significantly with increasing number of imbalances, that were +1q, -3p, +3q, -5q, -8p, +8q, +7p, +12p, and +14q. Altogether, the most frequent imbalances were +3q (49%), +5p (49%), -5q (36%), +8q (29%), -8p (24%), -3p (22%), +7p (22%), +12p (22%), +14q (20%), +18p (20%), +1q (18%), and +7q (18%). Among these, +3q and +18p correlated significantly with SCC, and +5p and +14q with NSCC. Remarkably, overlapping imbalances included +3q26, +7p11 in SCC and +1q21, +3q24, +12p11, and +14q12 in NSCC. EGFR expression was higher in SCC than in NSCC and correlated with +3q in the entire series. In addition, +12p correlated significantly with disease progress with the exception of nodal involvement in NSCC as well as with disease progress, regardless of nodal involvement, in the entire series. In conclusion, the present study contributes to the molecular biological characterization of NSCLC histological subtypes and through evaluation of molecular events to the recently emergent focus on novel markers for lung cancer treatment.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 between p16(cdkn2a) c540g polymorphism and tumor behavior in prolactinoma: A single-center study(Spandidos Publ Ltd, 2014-07-01) Karkucak, Mutlu; Gül, Özen Öz; ÖZ GÜL, ÖZEN; Yakut, Tahsin; Sağ, Şebnem Özemri; ÖZEMRİ SAĞ, ŞEBNEM; Ersoy, Canan; ERSOY, CANAN; Tuncel, Ercan; Ertürk, Erdinç; ERTÜRK, ERDİNÇ; Cander, Soner; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Endokrinoloji ve Metabolizma Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Genetik Anabilim Dalı.; AAJ-6536-2021; AAH-8861-2021; AAI-1005-2021; ABI-5648-2022; AAH-8355-2021Pituitary tumors usually originate as benign sporadic adenomas and develop into invasive and aggressive tumors such as prolactinomas, which are common functioning pituitary adenomas. The aim of the present study was to examine the association between the tumor behavior in prolactinomas and the p16(CDKN2A) gene polymorphism occurring at the 3'-untranslated region of exon 3 (C540G). A total of 104 patients with prolactinoma were included and assigned to two groups based on invasive vs. non-invasive tumor behavior. Ki67 indices were recorded according to histopathology results. Genotypic analysis of the p16( CDKN2A) C540G polymorphism was carried out using a modified polymerase chain reaction-restriction fragment length polymorphism assay. The corresponding frequencies for CC, CG and GG genotypes in non-invasive vs. invasive tumors were 61.5, 30.8, 7.7 and 64.1, 28.2, 7.7%, respectively ( not significant). The observed CG genotype frequency was higher compared with previous studies. In addition, the patients with giant adenomas or a high Ki67 index had a higher frequency of the CG genotype as compared with the other subgroups, although the differences were not significant (46.2 and 42.9%, respectively). In conclusion, a higher frequency of the C540G CG genotype of the CDKN2A gene was found among patients with prolactinoma in comparison with previous studies. These frequencies were also higher in the subgroups with elevated Ki67 or giant adenomas. Further studies are required to improve the definition of the role of the CG genotype in the development and progression of tumors in prolactinomas.Publication Association between the catechol-o-methyltransferase val158met polymorphism with susceptibility and severity of carpal tunnel syndrome(Sciendo, 2015-01-01) İnal, Erkol E.; Eroğlu, P.; Görükmez, O.; Sağ, Özemri S.; Yakut, T.; ÖZEMRİ SAĞ, ŞEBNEM; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; GIS-1493-2022; AAH-8355-2021Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy of the upper extremity. In this study, we aimed to clarify the relationships between the catechol-O-methyltransferase (COMT) gene Val158Met (rs4680) polymorphism and development, functional and clinical status of CTS. Ninetyfive women with electro diagnostically confirmed CTS and 95 healthy controls were enrolled in the study. The functional and clinical status of the patients was measured by the Turkish version of the Boston Questionnaire and intensity of pain related to the past 2 weeks was evaluated on a visual analog scale (VAS). The Val158Met polymorphism was determined using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), method. We divided patients according to the genotypes of the Val158Met polymorphism as Val/Val, Val/Met and Met/Met. There were not any significant differences in terms of Val158Met polymorphisms between patients and healthy controls (p >0.05). We also did not find any relationships between the Val158Met polymorphism and functional and clinical status of CTS (p >0.05). In conclusion, although we did not find any relationships between CTS and the Val158Met polymorphism, we could not generalize this result to the general population. Future studies are warranted to conclude precise associations.Item Association of GSTM1, GSTT1, GSTP1-ILE105VAL and ACE I/D polymorphisms with ankylosing spondylitis(Springer, 2015-06-27) İnal, Esra Erkol; Görükmez, Orhan; Eroğlu, Selma; Solak, Özlem; Görükmez, Özlem; Topak, Ali; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi//Tıbbi Genetik Anabilim Dalı.; HNQ-2791-2023; 57188923466; 55313334700; 6602802424Ankylosing spondylitis (AS) is a chronic inflammatory disease of unknown origin. The aim of this study is to clarify the relationships between susceptibility and severity of AS and GST-mu1 (GSTM1), GST-theta1 (GSTT1), GST-pi1 (GSTP1)-Ile105Val and angiotensin-converting enzyme (ACE) I/D polymorphisms in AS patients. One hundred thirty-eight AS patients and seventy-one healthy controls were enrolled in this study. Erythrocyte sedimentation rate and C-reactive protein (CRP) levels of the AS patients were recorded. The scores of the numeric rating scale (NRS) pain, the Bath Ankylosing Spondylitis Activity Index, the Bath Ankylosing Spondylitis Metrology Index and the Bath Ankylosing Spondylitis Functional Index were calculated. The genotypes distributions and allele frequencies of GSTM1, GSTT1, GSTP1-Ile105Val and ACE I/D polymorphisms were compared between patients and healthy controls. The Multiplex polymerase chain reaction (PCR) and the PCR-restriction fragment length polymorphism methods were used to detect the polymorphisms of ACE I/D, the GSTT1 and GSTM1 genes and the GSTP1-Ile105Val polymorphism, respectively. There were significantly higher levels of the GSTT1 null and the ACE II genotypes in AS patients compared to those in healthy controls (p = 0.002 and 0.005, respectively). We found significantly higher levels of CRP and the NRS pain scores in the patients with ACE ID or DD genotypes compared to those in the patients with ACE II genotypes (p = 0.005 and 0.035, respectively). The present results showed that genes involved in protection from oxidative stress and ACE gene may influence disease development and course in AS.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 Associations analysis of GSTM1, T1 and P1 Ile105Val polymorphisms with carpal tunnel syndrome(Springer, 2014-12-16) Eroğlu, Pınar; İnal, Esra Erkol; Sağ, Şebnem Özemri; Görükmez, Özlem; Topak, Ali; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi//Tıbbi Genetik Anabilim Dalı.; HNQ-2791-2023; AAH-8355-2021; AFZ-0764-2022; 36638231300; 57188923466; 55313334700; 6602802424Oxidative stress was related with carpal tunnel syndrome (CTS). We aimed to clarify the associations between glutathione S-transferase (GST)M1, GSTT1 and GSTP1-Ile105Val polymorphisms and CTS. One hundred-forty patients with CTS and 97 healthy controls were enrolled in this study. Tinel and Phalen signs were noted as positive or negative. Functional and clinical status of patients was evaluated by the Boston Questionnaire. The intensity of hand and/or wrist pain was evaluated on 10 cm visual analog scale (VAS). We applied the polymerase chain reaction (PCR) to determine the polymorphisms of the GSTM1 and GSTT1 and the PCR-restriction fragment length polymorphism method for detecting the GSTP1-Ile105Val polymorphism. The M1 null genotype was significantly higher in patients with CTS compared to healthy controls, and the M1 null genotype seemed to increase the risk of CTS approximately two-fold (P = 0.011; odds ratio (OR) = 1.98; 95 % confidence interval (CI) 1.17-3.36). The M1 null, T1 present combined genotype was significantly higher in patients with CTS compared to healthy controls (P = 0.043); however, it seemed not to increase the risk of CTS (P = 0.14; OR = 0.62; 95 % CI 0.33-1.76). We found significantly higher levels of the VAS, Boston Symptom Severity Scale and Phalen sign in patients with the Ile/Val or the Val/Val genotypes compared to those in patients with the Ile/Ile genotype (P = 0.003, 0.004 and 0.044, respectively). We proposed that genes involved in the protection from oxidative stress may influence the susceptibility, clinical and functional status of CTS. The GSTM1 null genotype may be related with the development of CTS, whereas the Val allele of GSTP1-Ile105Val polymorphism may be associated with worse functional and clinical status in CTS.Item Associations between polymorphisms of IL-17F and IL-17A genes with disease activity and clinical outcome of Ankylosing Spondylitis(Publisaude-Edicoes Medicas, 2016) İnal, Erkol Esra; Eroğlu, Selma; Solak, Özlem; Görükmez, Özlem; Sağ, Özemri; Görukmez, Orhan; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi//Tıbbi Genetik Anabilim Dalı.; AFZ-0764-2022; 56681045900; 56879109500; 6602802424Aims: In this study, we aimed to investigate the associations between the 7383A/G and 7488A/G polymorphisms of the interleukin (IL)-17F gene and the G197A polymorphism of the IL-17A gene with disease activity and clinical outcomes in Turkish patients with ankylosing spondylitis (AS). Methods: The study included 101 AS patients and 106 healthy controls. The erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) levels, in addition to scores of the Bath Ankylosing Spondylitis Disease Activity Index, Bath Ankylosing Spondylitis Metrology Index and Bath Ankylosing Spondylitis Functional Index (BASFI) of the patients, were recorded. The frequencies of genotypes 7383A/G and 7488A/G of the IL-17F and G197A of IL-17A genes and alleles were compared between the patients and healthy controls. Results: There were significant differences in the allele frequencies and genotype distribution of IL-17F 7488A/G. There were also significant differences in the CRP levels and BASFI scores of patients due to the genotype distribution of the IL-17F 7488A/G polymorphism (p=0.029, 0.045, respectively). Conclusions: This study suggests that the IL-17F 7488A/G polymorphism may be associated with susceptibility to AS, disease activity and functional status in Turkish patients. Further studies with larger numbers of AS patients, with a long-term follow-up, are needed to elucidate the observed relations.Item An azoospermic case with (16)(q22) fragile site(Springer, 2007) Gülten, Tuna; Temel, Sehime; Evke, Elif; Cangül, Hakan; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi.; AAG-8385-2021