Browsing by Author "Karkucak, Mutlu"
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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.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 Cathecol-O-methyl transferase Val158Met genotype is not a risk factor for conversion disorder(Funpec-Editora, 2013) Almacıoğlu, M. L.; Armaǧan, Erol; Yakut, Tahsin; Köse, Ataman; Karkucak, Mutlu; Köksal, Özlem; Görükmez, Orhan; Uludağ Üniversitesi/Tıp Fakültesi/Acil Tıp Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 0000-0003-2271-5659; L-7334-2015; AAM-7896-2020; AAH-8846-2021; ABI-5648-2022; AAK-8332-2020; 6506464232; 6602802424; 15755792500; 35388323500; 23389880200; 56681045900Alterations in catechol-O-methyltransferase (COMT) activity are involved in various types of neurological disorders. We examined a possible association between the COMT Val158Met polymorphism and conversion disorder in a study of 48 patients with conversion disorder and 48 control patients. In the conversion disorder group, 31 patients were Val/Met heterozygotes, 15 patients were Val/Val homozygotes and 2 patients were Met/Met homozygotes. In the control group, 32 patients were Val/Met heterozygotes and 16 patients were Val/Val homozygotes. There was no significant difference between the groups. We conclude that the COMT Val158Met genotype is quite common in Turkey and that it is not a risk factor for conversion disorder in the Turkish population.Item Childhood acute lymphoblastic leukemia with near-tetraplody and t(12; 21) (p13;q22) translocation: A case report(Akad Doktorlar Yayınevi, 2011) Karkucak, Mutlu; Yakut, Tahsin; Baytan, Birol; Gülten, Tuna; Güneş, Adalet Meral; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genel Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Hematoloji Anabilim Dalı.; 35388323500; 6602802424; 6506622162; 6505944216; 24072843300Fluroscent in situ hybridization analysis indicated presence of t(12;21)(p13;q22) translocation and near-tetraploidy in a case who 11-year-old boy and diagnosed with B precursor acute lymphoblastic leukemia (ALL). Although, some studies suggest good prognostic effect of translocation t(12;21) (p13;q22), there were very little data regarding the prognostic effect of Near-tetraploidy. Here we discussed the prognostic relevance of both t(12;21)(p13;q22) translocation and near tetraplody in Pre-B ALL.Item Comparison of aneuploidy frequencies between in vitro matured and unstimulated cycles oocytes by metaphase comparative genomic hybridization (mCGH)(Springer, 2012-05) Sher, Geoffrey; Keskintepe, Levent; Yakut, Tahsin; Karkucak, Mutlu; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 0000-0002-8661-6126; 0000-0002-3434-2362; GIS-1493-2022; FDJ-7858-2022; 6602802424; 35388323500A common observation after in vitro matured oocyte is that they yield poorer embryo quality compared to their in vivo counterparts. This study was designed to assess chromosomal status with metaphase comparative genomic hybridization after in vitro maturation (IVM) in unstimulated cycles and compare the results with those obtained after in vivo maturation. Patients without any obstetrical or gynecological pathology were admitted into the study. IVM oocytes were collected 36 h post hCG and matured in vitro at 37A degrees C in 5% O-2, 6% CO2, and 89% air for 36 h. All matured (metaphase II) oocytes were subject to polar body 1 (PB-1) biopsy and vitrified individually. PB-1 samples were transferred into 0.25 cc PCR tubes containing 2.5 mu l of PBS. PB-1 samples from 12 IVM patients were studied. Twenty-six out of 63 PB-1 samples (41%) were determined as euploid and 37 samples (59%) were aneuploid, whereas these values were 42% euploid and 58% aneuploid in the control group (in vivo matured oocytes). No statistical differences were found between the IVM and the control groups for euploid-aneuploid samples (P = 0.900). More aneuploidy was observed on chromosomes 11, 13, 15, 21, and 22 after IVM. Results show a non-significant rate of abnormal PB-1 formation after IVM compared to in vivo maturation. More aneuploidy was observed in chromosomes 11, 13, 15, 21, and 22 in the IVM group.Item Corrigendum to "Effect of cyclin D1 (CCND1) gene polymorphism on tumor formation and behavior in patients with prolactinoma" [Gene 509 (2012) 158-163](Elsevier, 2014-04-15) Cander, Soner; Ertürk, Erdinç; Karkucak, Mutlu; Öz Gül, Özen; Görükmez, Orhan; Yakut, Tahsin; Ünal, Oǧuz Kaan; Ersoy, Canan Özyardımcı; Tuncel, Ercan; İmamoğlu, Şazi; Uludağ Üniversitesi/Tıp Fakültesi/Endokrinoloji ve Metabolizma Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; AAI-1005-2021; AAJ-6536-2021; AAH-8861-2021; AFZ-0764-2022; ABI-5648-2022; 25027068600; 7005488796; 35388323500; 26040787100; 56681045900; 6602802424; 55042241400; 6701485882; 7006929833; 6602297533Item Does MBL2 codon 54 polymorphism play a role in the pathogenesis of psoriasis?(Wiley, 2014-01) Turan, Hakan; Özşahin, Mustafa; Gürlevik, Zehra; Yanık, Mehmet Emin; Uçgun, Taner; Yaykaşlı, Kürşat Oǧuz; Karkucak, Mutlu; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; ABI-5648-2022; 35388323500; 6602802424Background Psoriasis is a T cell-mediated immune disease in which various cytokines, primarily tumor necrosis factor- (TNF-), are complexly involved. Mannose-binding lectin (MBL) gene polymorphisms decrease MBL serum levels, thereby increasing the synthesis of proinflammatory cytokines such as TNF-. Objectives This trial was designed to evaluate the role of the MBL2 codon 54 polymorphism in the pathogenesis of psoriasis. Methods Fifty patients diagnosed with psoriasis vulgaris and 53 healthy subjects were included in the trial. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was applied to determine the MBL2 codon 54 polymorphism. Genotypes were determined according to the bands formed in agarose electrophoresis gels. For the statistical analysis, the level of significance was set at P<0.05. Results A total of 33 (66.0%) of the 50 psoriasis patients were detected to have A/A genotype and 17 (34.0%) had B/B genotype. Of the control subjects, 44 (83.0%) had A/A genotype and nine (17.0%) had B/B genotype. There was a statistically significant difference between the groups (P=0.047). The analysis of allele frequencies revealed A allele prevalences to be 79 (79.0%) and 95 (89.6%), and B allele prevalences to be 21 (21.0%) and 11 (10.4%), in the patient and control groups, respectively. A statistically significant difference between allele frequencies was detected (P=0.031). Conclusions This study suggests that the MBL2 codon 54 polymorphism may have an association with psoriasis in the Turkish population.Item Effect of cycline D1 (CCND1) gene polymorphism on tumor formation and behavior in patients with prolactinoma(Elsevier, 2012-11-01) Cander, Soner; Ertürk, Erdinç; Karkucak, Mutlu; Gül, Özen Öz; Görükmez, Orhan; Yakut, Tahsin; Ünal, Oğuz Kaan; Ersoy, Canan; Tuncel, Ercan; İmamoğlu, Şazi; Uludağ Üniversitesi/Tıp Fakültesi/Endokrinoloji ve Metabolizma Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; AAI-1005-2021; AAH-8861-2021; AAJ-6536-2021; 25027068600; 7005488796; 35388323500; 26040787100; 56681045900; 6602802424; 55042241400; 6701485882; 7006929833; 6602297533The objective of this study was to investigate the effect of G870A gene polymorphism of CCND1 on the formation and behavioral features of prolactinomas. One hundred and thirteen patients with prolactinoma and 108 age and gender matched control were included in the study. The patients were divided into two groups as noninvasive and invasive tumors. CCND1 G870A gene polymorphism was compared in patients/control and invasive/noninvasive groups. A and G allele frequencies were found as 41.7% and 58.3% in the controls, and 61.1% and 38.9% in the patients (p<0.01). Rates of G/G, G/A and A/A genotypes were found as 11.8%, 55.9% and 32.4% in the noninvasive group, and 15.6%, 44.4% and 40.0% in the invasive group, respectively. Differences between patient and control groups were significant but were not between invasive and noninvasive groups in terms of the allele frequencies and genotype distribution. Mean tumor size and serum levels of prolactin at the time of diagnosis and change in these values after the treatment were not found statistically significant in genotype subgroups. CCND1 G870A gene polymorphism may be an important factor in the early stages of the tumor formation. However, it did not affect the features of the tumor.Item Esansiyel trombositoz tanısıyla izlenen olgularda JAK-2 gen mutasyonu ve komplikasyonlarla ilişkisi(Uludağ Üniversitesi, 2011-02-18) Bayram, Murat; Özkocaman, Vildan; Özkalemkaş, Fahir; Ali, Rıdvan; Karkucak, Mutlu; Özçelik, Tülay; Irmak, Gönül; Yakut, Tahsin; Ocakoğlu, Gökhan; Aydın, Taner; Tunalı, Ahmet; Uludağ Üniversitesi/Tıp Fakültesi/İç Hastalıkları Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/İç Hastalıkları Anabilim Dalı/Hematoloji Bilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Biyoistatistik Anabilim Dalı.Esansiyel Trombositoz (ET) trombosit sayısının arttığı, kemik iliğinde megakaryositlerde proliferasyonla kendini gösteren, klinik olarak asemptomatik olabildiği gibi kanama ve tromboz ile seyredebilen, myeloproliferatif hastalıklar grubunda, klonal bir kök hücre hastalığıdır. Janus Kinaz 2 (JAK 2) gen mutasyonu ET’lu hastalarda %50 civarı bir oranda görülmekte, tromboz ve hemorajik komplikasyonlarda artışa neden olabilmektedir. Bu çalışmada amacımız, ET’lu hastalarda JAK 2 gen mutasyon sıklığını saptamak, görülen komplikasyonları incelemek ve komplikasyonlarla JAK 2 gen mutasyonunun ilişkisini değerlendirmektir. Bunun için Uludağ Üniversitesi Tıp Fakültesi İç Hastalıkları Anabilim Dalı, Hematoloji Bilim Dalı Polikliniği’ne Ocak 2005-Mayıs 2010 tarihleri arasında başvuran, ET tanısıyla izlenen ve JAK 2 gen mutasyonu bakılan 90 hastanın dosyaları klinik ve laboratuvar bulguları açısından geriye dönük olarak incelendi. Alınan 90 hastanın 58’i (%64,4) kadın, 32’si (%35,6) erkekti. Yaş ortalaması 55,4±14,9 (26-85) yıldı. Hastaların 38’inde (%42,2) JAK 2 gen mutasyonu pozitif olarak saptandı. Hastaların 29’unda (%32,2) kanama veya tromboz komplikasyonu gelişirken, bunların 21’inde (%72,4) JAK 2 gen mutasyonu pozitif olarak saptandı. Sonuç olarak, ET’lu hastalarda JAK 2 gen mutasyonunun tanı için önemli bir veri olduğu ve komplikasyonlarla ilişkili olabileceği kanaatine varıldı.Item Evaluation of the JAK2-V617F gene mutation in Turkish patients with essential thrombocythemia and polycythemia vera(Springer, 2012-09) Karkucak, Mutlu; Yakut, Tahsin; Özkocaman, Vildan; Özkalemkaş, Fahir; Ali, Rıdvan; Bayram, Murat; Görükmez, Orhan; Ocakoğlu, Gökhan; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/İç Hastalıkları Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Biyoistatistik Anabilim Dalı.; AAH-1854-2021; AAH-5180-2021; AAG-8495-2021; 35388323500; 6602802424; 6603145040; 6601912387; 7201813027; 54419512800; 56681045900; 15832295800An activating mutation of Janus kinase 2 (JAK2-V617F) was previously described in chronic myeloproliferative disorders (MPD). In previously published studies, the frequency of the JAK2-V617F mutation was determined to be 80-90 % for patients with polycythemia vera (PV) and 40-70 % for essential thrombocythemia (ET). In this study, we analyzed the relationship between the JAK2-V617F mutation and clinical-hematological parameters in Turkish patients with MPD and compared these findings with published studies from other geographic regions. A total of 148 patients were studied; of which, 70 were diagnosed with PV and 78 with ET. The mutation status of JAK2 was determined using a tetra-primer polymerase chain reaction. We found that 80 % of the PV group and 42 % of the ET group were positive for the JAK2-V617F mutation. When all patients were analyzed, the levels of white blood cells, hemoglobin and splenomegaly were significantly different in patients with the JAK2-V617F mutation (p < 0.05). To our knowledge, this study is the first to evaluate the relationship between MPD and JAK2-V617F in Turkish patients. The JAK2-V617F mutation is frequently detected in the Turkish patients with MPD, and especially in patients with PV. Hence, it would be useful to include JAK2 mutation screening in the initial evaluation of patients suspected to have MPD.Item Evaluation of TNF-alpha gene (G308A) and MBL2 gene codon 54 polymorphisms in Turkish patients with tuberculosis(Elsevier, 2016-11-18) Ceylan, Esma; Karkucak, Mutlu; Çoban, Hikmet; Karadağ, Mehmet; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Göğüs Hastalıkları Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 0000-0002-9027-1132; AAG-8744-2021; 6601970351; 6602802424Objective: MBL acts as a binding protein that enables uptake of mycobacteria into macrophages. And, TNF-alpha is an important cytokine that is involved in control of mycobacterial infections both in-vivo and in-vitro. A large number of genetic factors exerting susceptibility to tuberculosis has been identified, among which mannose-binding lectin and tumor necrosis factor-alpha call attention. The objective of this study is to compare the frequency of TNF-alpha and MBL gene polymorphisms between patients diagnosed with tuberculosis and healthy volunteers in Turkey, and determine the association between tuberculosis and TNF-alpha gene (G308A) and MBL2 gene codon 54 polymorphisms. Material and methods: The study included 69 patients who were diagnosed with tuberculosis and 70 control subjects. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to detect TNF-alpha (G308A) gene and MBL2 gene codon 54 polymorphisms. For statistical analysis, the significance level was determined as p < 0.05. Results: A comparison between patient and control groups in TNF-alpha (G308A) gene and MBL2 gene codon 54 polymorphisms showed no statistically significant difference (p > 0.05). However, a comparison of mean body mass index (BMI) and smoking status showed a statistically significant difference between the tuberculosis and control groups (p = 0.01 and p = 0.009, respectively). Conclusion: Our results suggest that the MBL2 gene Codon 54 and TNF-alpha gene G308A polymorphisms are not associated with an increased risk for development of tuberculosis in our patients. Further studies are required including more cases of tuberculosis patients and other potentially relevant gene polymorphisms.Item Genetic heterogeneity in congenital hypothyroidism(Bmj Publishing Group, 2009-09) Morgan, Neil V.; Pasha, Shanaz; Kirby, Gail; Hoegler, Wolfgang; Barrett, Timothy; Maher, E. R.; Cangül, Hakan; Karkucak, Mutlu; Eren, Erdal; Yakut, Tahsin; Sağlam, Halil; Tarım, Ömer; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.; 0000-0003-0710-5422; 0000-0002-1684-1053; AAM-1734-2020; AAH-1155-2021; C-7392-2019Item Glutathione S-transferase M1 and T1 gene polymorphisms are not associated with increased risk of gestational diabetes mellitus development(Univ West Indies Faculty Medical Sciences, 2014-08) Orhan, O.; Atalay, Mehmet Aral; Orhan, Fulya; Karkucak, Mutlu; Centinkaya Demir, B.; Yakut, Tahsin; Cengiz, Candan; Uludağ Üniversitesi/Tıp Fakültesi/Kadın Hastalıkları ve Doğum Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Eczacılık Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; AAH-9834-2021; ABI-5648-2022; 53863297800; 55866311800; 35388323500; 57196943280; 6602802424; 6701513182Aim: The aim of this study was to investigate whether the glutathione S-transferase M1 (GSTM1) and T1 (GSTT1) gene polymorphisms contributed to development of gestational diabetes mellitus (GDM). Subjects and Methods: Fifty women with diagnosis of GDM and 50 control individuals without GDM or altered glucose intolerance during their pregnancy were enrolled in the study. Multiplex polymerase chain reaction-restriction fragment length polymorphism method was applied to determine the GSTM1 and GSTT1 gene polymorphisms. Genotypes were determined according to bands detected with the agarose gel electrophoresis. Results: The difference in the frequencies of GSTM1 null genotypes between GDM and control groups was not statistically significant (60% and 54%, respectively). There was no statistically significant difference between GDM and control groups with respect to GSTT1 null genotype rates (22% and 20%, respectively). Conclusion: This study shows no association between GST gene polymorphisms and GDM.Item Glutathione S-transferase M1 and T1 gene polymorphisms in patients with chronic plaque-type psoriasis: A case-control study(Karger, 2015-11-03) Solak, Berna; Karkucak, Mutlu; Turan, Hakan; Uslu, Esma; Erdem, Teoman; Ocakoğlu, Gökhan; Sağ, Şebnem Özemri; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Biyoistatistik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; AAH-8355-2021; AAH-5180-2021; 57073882900; 57116515700; 6602802424Objective: To determine the role of glutathione S-transferase (GST) isoenzyme polymorphisms as susceptibility factors in patients with psoriasis in a Turkish cohort. Subjects and Methods: In this case-control study, 105 patients with plaque-type psoriasis and 102 healthy controls were recruited from the dermatology outpatient clinics of two university hospitals. Genomic DNA was extracted from whole blood using a DZ DNA isolation kit. Multiplex PCR was used to determine GSTM1 and GSTT1 polymorphisms in the isolated DNAs. Results: Of the 150 patients with psoriasis, 83 (79%) were identified with the GSTT1 genotype and 22 (21%) with the null genotype. Of the 102 patients in the control group, 69 (67.6%) subjects were identified with the GSTT1 genotype and 33 (32.4%) with the null genotype. There was no significant difference between the patient and control groups (p = 0.063). Regarding the GSTM1 polymorphism, 54 (51.4%) patients were identified with this genotype and 51 (48.6%) with the null genotype; in the control group, 50 (49%) were identified with this genotype and 52 (51%) with the null genotype. Again there was no statistically significant difference between the groups (p = 0.957). Conclusion: In this Turkish cohort of patients with psoriasis, neither GSTT1 nor GSTM1 polymorphisms were associated with disease susceptibility. Larger studies with a wider range of GST isoenzyme are needed.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 GSTT1 and GSTM1 gene polymorphisims in sarcoidosis(Mattioli 1885, 2016) Karkucak, Mutlu; Yılmaz, Dilber; Coşkun, Funda; Yakut, Tahsin; Uzaslan, Esra; Uludağ Üniversitesi/Tıp Fakültesi/Göğüs Hastalıkları Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 0000-0003-3604-8826; AAD-1271-2019; GIS-1493-2022; CDI-1977-2022; 21734137500; 6602802424; 8761653500Introduction: Sarcoidosis is a granulomatous disease of unknown cause, which affects all systems, especially the lungs and the lymphatic system. Genetic and environmental factors are held accountable for the etiology. Based on the general opinion, sarcoidosis develops after exposure to a specific environmental agent by genetically susceptible individuals. The present study aimed to evaluate the disease susceptibility of the GSTT1 and GSTM1 gene polymorphisms in the patients with sarcoidosis. Method: The present study included 78 patients; 38 patients with histopathologically verified sarcoidosis and 40 control subjects. Multiplex PCR method was used to determine the GSTT1 and GSTM1 gene polymorphisms. The genotype was determined based on the bands formed in the agarose gel electrophoresis. The statistical analysis was done using the chi-square test. Results: The positive/negative genotype rates were 79%/21% and 53%/47%, respectively in the case group for the GSTT1 and GSTM1 gene polymorphisms, whereas the positive/negative genotype rates were 77%/23% and 55%/45% in the control group. There was no statistically significant difference in the positive and negative genotypes compared with the case group and the control group for the GSTT1 and GSTM1 gene polymorphisms (p > 0.05). Discussion: The results from the present study suggest that there is not any association with the control group for the disease susceptibility of the GSTT1 and GSTM1 gene polymorphisms in patients with sarcoidosis, and this result should be supported by large-scale studies because of the limited number of cases in the present study.Item High hyperdiploidic chromosomes in a child with acute lymphoblastic leukemia(Springer, 2007) Karkucak, Mutlu; Yakut, Tahsin; Gülten, Tuna; Baytan, Birol; Cangül, Hakan; Güneş, A. Meral; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; ABI-5648-2022Item Investigation of ABCB1 gene polymorphism with colchicine response in Behçet's disease(Funpec-Editora, 2011) Sarıcaoğlu, Hayriye; Yılmaz, Mediha; Karkucak, Mutlu; Öztürk, Hülya Z.Y.; Yakut, Tahsin; Gülten, Tuna; Bülbül, Emel Başkan; Aydoğan, Kenan; Dilek, Kamil; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Dermatoloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Romatoloji Anabilim Dalı.; 0000-0002-0144-3263; AAH-1388-2021; 6603722836; 35148700000; 35388323500; 57197115377; 6602802424; 6505944216; 6602518817; 9739755800; 56005080200Colchicine is commonly used in the treatment of Behcet's disease. However, some patients are unresponsive to colchicine treatment. Adenosine triphosphate-binding cassette subfamily B member 1 (ABCB1) transports colchicine out of cells. We investigated a possible association of C3435T polymorphism of the ABCB1 (MDR1) gene with colchicine response in patients with Behcet's disease. We randomly selected 97 patients with Behcet's disease, examined ABCB1 (MDR1) gene C3435T polymorphisms, and evaluated patient responses to colchicine. Forty-three patients were colchicine responsive, while the remaining 54 patients were unresponsive. No significant difference was found between genotypic and allelic frequencies of the ABCB1 C3435T polymorphisms in patients with Behcet's disease and healthy volunteers. Also, there was no significant difference among responsive and nonresponsive patients. We concluded that ABCB1 C3435T polymorphism is not associated with a colchicine response in patients with Behcet's disease.Item Investigation of gstp1 (ile105val) gene polymorphism in chronic myeloid leukaemia patients(Kamla-Raj Enterprises, 2012-09) Karkucak, Mutlu; Yakut, Tahsin; Gülten, Tuna; Ali, Rıdvan; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/İç Hastalıkları Anabilim Dalı/Hematoloji Bölümü.; 0000-0002-3434-2362; ABI-5648-2022; 35388323500; 6602802424; 6505944216; 7201813027The factors leading to the development of Chronic Myeloid Leukemia (CML) are not fully known. Associations between polymorphisms for genes encoding Glutathione S-transferase (GST) enzymes involved in Phase II detoxification reactions and susceptibility to some cancers have been shown in several studies. The aim of the present study was to investigate the influence of the GSTP1 (Ile105Val) gene polymorphism on human susceptibility to CML. Seventy-one CML patients and 67 control subjects with no cancer history were enrolled in our study. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to identify the GSTP1 (Ile105Val) gene polymorphism. Genotypes were determined according to the bands that formed in agarose gels via gel electrophoresis. Leukocytes in the CML patient group were significantly different from those in the control group (p=0.0001). The frequency of the GSTP1 Val allele was found to be 22% in CML patients and 31% in controls. However, no statistical variation was found to exist between controls and patients in terms of the GSTP1 Val allele frequency (p=0.199). The relationship between the GSTP1 (Ile105Val) gene polymorphism and CML is not fully understood. Our results provide no evidence of a relationship between the GSTP1 (Ile105Val) gene polymorphism and susceptibility to CML in Turkish patients. However, these findings should be confirmed in studies with larger sample sizes.
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