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Öğe 48 / XXYY MALE CASE WITH PRIMARY INFERTILITY(Rojan GÜMÜŞ, 2020) Balkan, Mahmut; Oral, Diclehan; Tekeş, Selahattin; Şimşek, Selda; Türkyılmaz, Ayşegül; Yücel, İlyas; Binici, MahirKlinefelter syndrome is a sex chromosomal aneuploidies with at least one extra X chromosome than normal male karyotype. The classic form of the 47 / XXY karyotype, the incidence of this syndrome is one in 500-1000 live male births. The incidence of 48 / XXYY male individuals with many phenotypic features of Klinefelter syndrome is extremely rare and occurs in 1: 18000 -1: 100.000 men. However, they differ from Klinefelter syndrome with serious behavioral problems, mental reterdation and susceptibility to psychiatric diseases [1 ]. A 38-year-old man, referred to our Medical Biology and Genetics laboratory for karyotype analysis with primary infertility. He had undergone varicocele surgery and had high levels of FSH, low levels of testosterone and high levels of LH. Semen analysis demonstrated azoospermia In the psychiatric examination of the patient, whose IQ level was 90, language, learning and behavior disorder were diagnosed. The patient with deep vein thrombosis was recommended angiography because of right heart failure. Karyotype analysis revealed with 48,XXYY. This rare case shows the importance of karyotype analysis in diagnosis. In this study, the clinical and laboratory findings of the case are presented with the literature.Öğe A Rare Abnormal Male Karyotype with 46,X,DER(Y)(YQTER›P11.3(Veysi AKPOLAT, 2021) Oral, Diclehan; Balkan, Mahmut; Tekeş, Selahattin; Yücel, İlyas; Erdal, Gülbahar Güzel; Binici, Mahir; Kavak, Fikriye FulyaObjective: Structural chromosomal abnormalities such as translocation in males and y deletions in the molecular missile cause infertility and related azoospermia. The aim of this study was to perform the karyotype analysis of a 51-year-old male patient who was referred to Dicle University Faculty of Medicine, Department of Medical Biology and Genetics for karyotype analysis due to primary infertility. Methods: Chromosome analysis was performed in peripheral blood culture by applying the conventional cytogenetic method and GTG banding technique. Results: Chromosome analysis a rare abnormal karyotype with 46, X, der(Y) (Yqter›p11.3Öğe Angiotensin-converting enzyme and angiotensin II type 1 receptor gene polymorphisms in children with subacute sclerosing panencephalitis(Wiley, 2006) Taşdemir, Nebahat; Ece, Aydın; Tekeş, Selahattin; Dikici, Süber; Güneş, Ali; Balık, Hasan; 0000-0001-6764-8336Subacute sclerosing panencephalitis (SSPE) is a progressive, debilitating, and fatal brain disorder caused by mutant measles virus infection. Although both viral and host factors seem to be involved in SSPE, the exact pathogenesis remains to be determined. Autoimmune demyelination is characteristic of SSPE. The blood angiotensin-converting enzyme (ACE) activity and angiotensin II (Ang II) levels are associated with the ACE gene polymorphism. Proinflammatory effects of Ang II may contribute to the development of SSPE. The aim of this study was to investigate whether the ACE and Ang II type I receptor (AT1R) (A1166C) gene polymorphisms were associated with SSPE. The polymorphisms were investigated by polymerase chain reaction (PCR) in 43 patients with SSPE and 100 healthy controls. The genotype distribution of the SSPE children and healthy controls were as follows: DD 58.1% versus 34.0, ID 37.2% versus 48.0%, and II 4.7% versus 18.0, respectively (P=0.012). Allele frequencies of patients and controls were D 76.7% versus 58.0%, and I 23.3% versus 42.0%, respectively (P = 0.004). The frequency of DD genotype and D allele were significantly higher in SSPE children compared with controls (P < 0.05). AT1R, gene polymorphism distribution was found to be similar in SSPE children and control subjects: AA 55.8% versus 60.7%, AC 37.2% versus 32.1%, and CC 7.0% versus 7.2%, respectively (P > 0.05). In conclusion, the results of this study suggest that the DD genotype of ACE I/D polymorphism maybe related to SSPE. Due to small size of this study, further studies with more patients are needed to confirm these results. (c) 2006 Wiley-Liss, Inc.Öğe Clinical, biochemical, and genotypical characteristics in urea cycle mitochondrial transporter disorders(Verduci Editore s.r.l, 2024) Bilgin, Hüseyin; Bilge, Serap; Binici, Mahir; Tekeş, Selahattin– BACKGROUND: This study aimed to evaluate clinical, biochemical, and genotypic findings of patients diagnosed with urea cycle mitochondrial transporter disorders. CASE SERIES: In this study, patients followed up with the diagnosis of urea cycle mitochondrial transporter disorders in the pediatric metabolism outpatient clinic of Diyarbakir Children’s Hospital were retrospectively examined. Height, weight, head circumference, gender, age at diagnosis, follow-up period, consanguinity history between parents, and treatments of the patients included in the study were evaluated. Eight patients suffering from urea cycle mitochondrial transporter disorders were enrolled in the study. Five patients were found to have biallelic variants of the SLC25A15 gene. Two patients were found to have biallelic variants of the SLC25A13 gene. Two of our patients presented with gait disturbances and were diagnosed with HHH syndrome. One patient presented with liver failure and was diagnosed with HHH syndrome. The other three patients were identified by family screening. Citrin deficiency was detected in two patients with cholestasis and hepatomegaly in the infantile period. Ornithine levels increased in three of our patients with HHH syndrome during the first month of treatment despite a protein-restricted diet and adequate caloric intake. CONCLUSIONS: Increasing patients’ caloric intake with HHH syndrome improves their ornithine levels. Our patients with citrin deficiency recovered clinically and biochemically before seven months.Öğe Comparison of C-peptide levels in monogenic forms of diabetes with other types of diabetes: A single-center study(Acta Endocrinologica Foundation, 2023) Geneş, Dilek; Pekkolay, Zafer; Şimşek, Mehmet; Saraçoğlu, H.; Turgut, M.; Tekeş, Selahattin; Tuzcu, Alpaslan KemalObjective. This study aimed to evaluate the utility of C-peptide levels in the differentiation of monogenic forms of diabetes from type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM) in clinical practice. Subjects and Methods. A total of 104 patients aged >16 who visited the Dicle University’s Faculty of Medicine between April 2011 and December 2020 and were diagnosed with monogenic diabetes by genetic analysis or with T1DM and T2DM were randomly selected for retrospective evaluation. The C-peptide levels of these patients at the time of diagnosis of diabetes were compared. Results. Of the 104 patients, 24 (23%) were diagnosed with maturity-onset diabetes of the young (MODY), 40 (38.5%) with T1DM, and 40 (38.5%) with T2DM. Median C-peptide levels (ng/mL) (interquartile range) were 1.78 (1.24-2.88) in MODY group, 0.86 (0.34- 1.22) in T1DM group, and 2.38 (1.58-4.27) in T2DM group. Conclusions. There was a difference in C-peptide levels between MODY and T1DM groups but not between MODY and T2DM groups. As per clinical evaluations, although C-peptide levels of patients with MODY are similar to those of patients with T2DM patients, the possibility of C-peptide levels being similar to those required for T1DM diagnosis should also be considered.Öğe Crystalline gene mutations in Turkish children with congenital cataracts(Springer, 2021) Karahan, Mine; Demirtaş, Atılım Armağan; Erdem, Seyfettin; Ava, Sedat; Tekeş, Selahattin; Keklikçi, UğurPurpose To detect crystallin gene mutations in Turkish children with congenital cataracts. Methods The present study included 56 children (38 males and 18 females) who were diagnosed with congenital cataract in our ophthalmology clinic. The patients' blood samples were collected and sent to the medical genetics laboratory. The samples were assessed using the sequence analysis method, which covered all exons of CRYAA, CRYAB, CRYBB1, CRYBB2, CRYBB3, CRYGC and CRYGD. Results In total, 56 patients with congenital cataracts were included in the present study. Of these, 68% were male and 32% were female. The age range of the patients was 2 months to 5 years. The mean age of onset was 21.08 +/- 15.15 months. All the patients had bilateral congenital cataracts. The female-to-male ratio was 1:2.1. Mutation analysis was performed to detect possible mutations in CRYAA, CRYAB, CRYBB1, CRYBB2, CRYBB3, CRYGC and CRYGD. Of the four mutations detected, one was novel (c.383A > T in CRYGD) and three were known (c.592C > T in CRYBB2, c.164A > G in CRYGC and c.592C > T in CRYBB2). Two of these three mutations were detected in the same gene (CRYBB2). Crystallin gene mutations were detected in 7% of patients with congenital cataracts (four out of 56 patients) in the present study. Conclusions We think that mutations in crystallin genes are responsible for 7% of congenital cataract cases in our country. The detection of these mutations may help in the molecular diagnosis of congenital cataracts.Öğe Determination of serum hepatitis B virus DNA in chronic HBsAg carriers: Clinical significance and correlation with serological markers(2003) Yalçın, Kendal; Değertekin, Halil; Budak, Turgay; Tekeş, Selahattin; Satıcı, Ömer; Alp, M. NailAmaç: Hepatit B virus infeksiyonu Türkiye dahil tüm Dünya'da en önemli sağlık problemlerinden biridir. Bu çalışmada, HBV genomik yükü ile kronik HBV infeksiyonunun progresyonunu gösteren çeşitli parametereler arasındaki korelasyonun incelenmesi amaçlandı. Yöntem: Çalışmaya 126 inaktif HBsAg taşıyıcısı, 50 asemptomatik replikatif taşıyıcı (immüntoleran hasta), 90 kronik hepatit B ve 88 karaciğer sirozlu vaka olmak üzere toplam 354 kronik HBsAg taşıyıcısı alındı. Çalışma hastaları en az 6 aylık izlem süresince kalıcı olarak serumda HBsAg, HBeAg ve anti-HBe pozitifliği saptanan, yaşları 14-62 arasında değişen, kadın ve erkeklerden oluşmaktaydı. Serum HBV DNA düzeyi sıvı hibridizasyonla saptandı ve sıvı hibridizasyon değeri l pg/ml olan hastalarda ayrıca ek olarak PZR incelemesi yapıldı. Bulgular: Toplam 354 hastanın 118'i (%33) HBeAg-pozitif ve 236'sı (%67) HBeAg-negatif hastalardan oluşmaktaydı. HBeAg-negatif hastaların, 126'sı (%53) normal ALT düzeyine sahipken 31'inde (%13) yüksek ALT düzeyi (kronik hepatit B), ve 79'unda ise (%33) siroz saptanırken bu oranlar HBeAg-pozitif hastalarda sırasıyla 50 (%42), 59 (%50) ve 9 (%8) idi. Transaminaz değerleri ile histolojik karaciğer hasarı arasında anlamlı bir korelasyon mevcutken viral replikas-yon düzeyi ile karaciğer hasarı arasında anlamlı bir korelasyon bulunmadı. Sonuç: HBV'ye bağlı karaciğer hastalığında HBV DNA önemli ve spesifik bir işaretleyici olmasına karşın bu çalışmada ALT'nin karaciğer inflamasyonunu göstermede en iyi işaretleyici olduğu bulunmuştur. Bu bulgular, yeni olmamasına karşın, kronik HBsAg taşıyıcılarında gereksiz ve pahalı viral yük tayinlerinin yapılmaması konusunda ek bilgiler sağlamıştır.Öğe Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants(Oxford University Press, 2020) Neuray, Caroline; Maroofian, Reza; Scala, Marcello; Sultan, Tipu; Pai, Gurpur Shashidhar; Mojarrad, Majid; Khashab, Heba Youssef E.L.; deHoll, Leigh; Yue, Wyatt Wai Yin; Alsaif, Hessa S.; Zanetti, María Natalia; Bello, Oscar; Person, Richard Erwin; Eslahi, Atieh; Khazaei, Zaynab; Feizabadi, Masoumeh Heidari; Efthymiou, Stephanie; El-Bassyouni, Hala Tabie; Soliman, Doaa Refaey; Tekeş, Selahattin; Özer, Leyla; Baltacı, Volkan; Khan, Suliman; Beetz, Christian; Amr, Khalda; Salpietro, Vincenzo; Jamshidi, Yalda; Alkuraya., Fowzan S.; Houlden, Henry H.; Groppa, Stanislav A.; Karashova, Blagovesta Marinova; Nachbauer, Wolfgang; Boesch, Sylvia M.; Arning, Larissa; Timmann, Dagmar; Cormand, Bru; Pérez-Dueñas, Belén; Di Rosa, Gabriella; Goraya, Jatinder Singh; Mine, June; Avdjieva-Tzavella, Daniela Mircheva; Kathom, Hadil Mohamed; Tincheva, Radka Stefanova; Banu, Selina H.; Pineda-Marfà, Mercedes; Veggiotti, Pierangelo; Ferrari, Michel D.; Verrottï, Alberto; Marseglia, Gian Luigi; Savasta, Salvatore; García-Silva, Mayte; Ruiz, Alfons Macaya; Garavaglia, Barbara; Borgione, Eugenia; Portaro, Simona; Sanchez, Benigno Monteagudo; Boles, Richard G.; Papacostas, Savvas S.; Vikelis, Michail; Papanicolaou, Eleni Zamba; Dardiotis, Efthymios; Maqbool, Shazia; Ibrahim, Shahnaz Hamid; Kirmani, Salman; Rana, Nuzhat Noureen; Atawneh, Osama M.; Koutsis, Georgios; Breza, Marianthi; Mangano, Salvatore; Scuderi, Carmela; Morello, Giovanna; Stojkovic, Tanya; Zollo, M.; Heimer, Gali; Dauvilliers, Yves A.; Striano, Pasquale; Al-Khawaja, Issam; Al-Mutairi, Fuad; Sherifa, HamedGamma-aminobutyric acid (GABA) and glutamate are the most abundant amino acid neurotransmitters in the brain. GABA, an inhibitory neurotransmitter, is synthesized by glutamic acid decarboxylase (GAD). Its predominant isoform GAD67, contributes up to ∼90% of base-level GABA in the CNS, and is encoded by the GAD1 gene. Disruption of GAD1 results in an imbalance of inhibitory and excitatory neurotransmitters, and as Gad1-/- mice die neonatally of severe cleft palate, it has not been possible to determine any potential neurological dysfunction. Furthermore, little is known about the consequence of GAD1 disruption in humans. Here we present six affected individuals from six unrelated families, carrying bi-allelic GAD1 variants, presenting with developmental and epileptic encephalopathy, characterized by early-infantile onset epilepsy and hypotonia with additional variable non-CNS manifestations such as skeletal abnormalities, dysmorphic features and cleft palate. Our findings highlight an important role for GAD1 in seizure induction, neuronal and extraneuronal development, and introduce GAD1 as a new gene associated with developmental and epileptic encephalopathy. © The Author(s) (2020). Published by Oxford University Press on behalf of the Guarantors of Brain. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.Öğe The effects of high voltage transmission line on humans(1992) Çelik, Mustafa Salih; Daşdağ, S.; Akdaǧ, Zülküf; Kaya, Halil; Aydınol, Belkıs; Tekeş, Selahattin; Balcı, K.; Akşen, Feyzan; Kaya, Abdurrahman; Sert, C.; 0000-0003-1211-9677; 0000-0003-2005-6100In this study, we investigated the effects of High Voltage Transmission Lines (HVTL) on people who work and live in such areas. The study was carried out on 51 persons from 15 to 50 years of age ex-posed to electric field. First, we gave out a questionnaire to everybody under investigation. We established that these people most often suffer from headache, irritability, fatigue, stress and shock. Secondly, we determined 23 parameters of their blood serum. The levels of ALP, Na, Cl, total protein, albumin, Group Specific Component, ceruloplasmin and albumin/globulin ratio were found especially significant.Öğe Hematolojik Kanser Tanılı Hastaların Kemik İliği Örneklerindeki Kromozomal Anomaliler: Tek Merkezden 109 Olgunun FISH Sonuçları(Uşak Cerrahi Derneği, 2022) Çalışkan, Lütfiye Gül; Balkan, Mahmut; Tekeş, Selahattin; Oral, Diclehan; Binici, Mahir; Yücel, İlyasAmaç: Hematolojik kanserler, kemik iliği, kan ve lenf düğümlerini etkileyen genellikle yapısal ve sayısal kromozom anomalileri ile ilişkili bir neoplazma grubudur. Hematolojik kanserlerde kemik iliği incelemesi, hastalığın tanısı ve prognozu hakkında aydınlatıcı ve yönlendirici bir role sahiptir. Çalışmamızda, hematolojik kanser tanılı hastalarda belirli genetik düzensizliklerin Floresan In Situ Hibridizasyon (FISH) yöntemi kullanılarak elde edilen sonuçlarının retrospektif olarak değerlendirilmesi amaçlanmıştır. Gereç ve Yöntem: Çalışmamızda,1 Ocak 2021-30 Kasım 2021 tarihleri aralığında, Dicle Üniversitesi Tıp Fakültesi Tıbbi Biyoloji ve Genetik Anabilim Dalı'na, Hematoloji anabilimdalı ve diğer kliniklerden yönlendirilen hematolojik kanser ön tanılı 109 hastanın (KML n=14, AML n=40, KLL n=6, ALL n=27, M.Myelom n=22) kemik iliği örneklerinden FISH yöntemi kullanılarak elde edilen sonuçları yaş, cinsiyet, hastalık dağılımı açısından retrospektif olarak incelenmiştir. Çalışma grubuna alınan hastaların tümü kromozomal anomaliler, sayısal ve yapısal değişlikler ya da dengeli translokasyon varlığı açısından değerlendirilmiştir. Bulgular: Olguların 47’si kadın 62’si erkek hasta olup yaş ortalaması 48±21,6 olarak tespit edildi. Olguların incelenmesi sonucunda, AML için bilinen; t(15;17), monozomi 7 ve trizomi 8, KML için t(9;22); KLL de del(13q14) ve del(17p13), M.Myelom için t(11;14)(q13;q32), ALL için (t[9;22]) (bcr-abl) ve t(4;11) gibi yapısal ve sayısal kromozom değişiklikleri ilk olarak gösterilmi?tir. Ayrıca grupların karşılaştırılmasında kadın erkek incelemeye katılan materyaller arasında anlamlı fark bulunamamıştır. Sonuç: FISH yöntemi ile hematolojik kanser ön tanısı almış hastalarımızla yaptığımız bu retrospektif çalışmada hastalıklarla ilişkili prognostik olarak önemli anomaliler ile ilgili sonuçlarımızı değerlendirdik. Hastalıkların tanılarının hızlı ve doğru olarak tespitinin hastalığın tedavi planlaması ve seyrinin ön görüsü açısından çok önemlidir. Sonuç olarak bizim çalışma sonuçlarımıza göre kısıtlı ve zor şartlarda alınan kemik iliklerinden hücre elde etmenin zorluğu göz önüne alındığında FISH yönteminin interfaz hücrelerinde bile çalışma imkanı sağlaması nedeniyle kanser genetiğinde kullanılan güçlü ve etkili bir teknik olduğu kanaatine varılmıştır.Öğe Neurologic and biochemical findings and CD4/CD8 ratio in people occupationally exposed to RF and microwave(1992) Daşsağ, S.; Balcı, K.; Çelik, Mustafa Salih; Batun, Sabri; Kaplan, Abdurrahman; Bolaman, Zahit; Tekeş, Selahattin; Akdaǧ, Zülküf; 0000-0003-1211-9677In this study, we investigated the biological effects of RF (Radio Frequency) and microwave in terms of neurological and biochemical findings, and CD4/CD8 ratio in people that work at broadcasting and television transmitter stations. The study was carried out on 26 people from 20 to 49 years of age, occupationally exposed to nonionizing radiation. First we gave out a questionnaire consisting of 12 questions to everybody under investigation. Secondly, we determined the levels of ALT, AST, LDH, ALP, CK, phosphorus, total protein, albumin cholesterol, uric acid, urea, creatinin, Na, K, and NSE (Neuron Specific Enolase), and also CD4/CD8, albumin/globulin ratios and percentage of serum proteins. The results obtained in this study were statistically compared to a control group.Öğe Prevalence of HLA B27 in patients diagnosed with Ankylosing Spondylitis (AS) in Diyarbakır, Southeastern Region of Turkey(2024) Oral, Diclehan; Erdal, Gülbahar G.; Tekeş, Selahattin; Yücel, İlyas; Em, SerdaAIM: The research to be conducted on human leukocyte antigen (HLA)-B27 in patients diagnosed with ankylosing spondylitis (AS) in Diyarbakır between 2019-2021 is to contribute to the understanding of the prevalence and effect of this genetic marker in the local population. As a researcher working on HLA-B27 and AS, our focus is to research the following. HLA-B27 Prevalence: To determine the prevalence of HLA-B27 in patients diagnosed with AS during the specified period in Diyarbakır. This information can provide insight into the genetic factors associated with the disease in the local population. Disease Severity: Investigate the relationship between HLA-B27 positivity and severity of AS symptoms. To examine factors such as disease progression, pain levels, functional impairment, and quality of life in HLA-B27 positive patients compared to HLA-B27 negative patients. By Genetic Associations: To enable the discovery of potential genetic relationships between HLA-B27 and other genetic markers known to be associated with AS. To investigate whether there are any specific genetic variants associated with HLA-B27 that contribute to disease susceptibility or severity. Researchers: We recommend considering the following approaches to generate knowledge on this topic globally: Literature Review: Conducting a comprehensive review of the available scientific literature on HLA-B27 and AS. It is to describe relevant studies conducted globally and summarize their findings to provide a broader understanding of the subject. Collaboration and Data Sharing: To encourage cooperation with researchers from other regions or countries doing similar studies on HLA-B27 and ASs. By sharing our data and collaborating on analysis, we can improve the global perspective and generalizability of your findings. International Conferences and Journals: Presenting our research findings at international conferences focusing on rheumatology, genetics or related fields. To disseminate our findings globally is to submit your research articles to reputable journals specializing in AS or genetic studies. Online Platforms: Using online platforms such as Researchgate.net, academia.edu or social media networks to share our research findings, connect with other researchers in the field and participate in discussions on a global scale. By using these fields, it is possible to contribute to the global knowledge and understanding of the relationship between HLA-B27 and AS. It is also to obtain insights from studies carried out in other regions. MATERIALS AND METHODS: 198 (104 male and 94 female) patients who applied to Dicle University Faculty of Medicine Physical Therapy and Rehabilitation Clinic with AS symptoms between 2019-2021 and were referred to Dicle University Medical Biology and Genetics Department for evaluation. HLA-B27 positivity was included in our study as a case group. As the control group, 50 people (25 males, 25 females) were selected among the unrelated people who applied to our laboratory to be a bone marrow donor. In both groups, DNA isolation was performed from peripheral blood using the salt precipitation method. Rotar Gene Q device was used for real-time PCR analysis. As a statistical method in analysis; The prevalences of the variables of interest were calculated. The lower and upper limits of 95% were determined as the confidence interval. According to the presence of HLA 27 positivity, the mean of ESR, CRP, and age variables were compared. Mann-Whitney U test was used due to the small number of subjects. Also, correlations between ESR and CRP were calculated. Spearman rho correlation statistics were used as a statistical method. Analyzed. RESULT: Radiological examinations and laboratory tests were performed on 198 patients with suspicion AS and 50 healthy control group of 248 subjects. The prevalence of those with a definite diagnosis of AS was calculated as statistical analysis recalculated 20.16 (95% CI: 0.76-0.9552). The prevalence of HLA-B27 in 50 patients diagnosed with AS as a result of radiological examinations and laboratory tests was calculated as 92%. CONCLUSION: Our study is the first study covering the province of Diyarbakır in the Southeastern Anatolia Region, which we think will contribute to the literature in the evaluation of HLA-B27 positivity in AS patients. The prevalence of HLA-B27 in our region is higher than the prevalence in Turkey.Öğe Sitokrom P450 2C9 (CYP2C9) geninde polimorfizm analizi(Dicle Üniversitesi, Sağlık Bilimleri Enstitüsü, 2001) Tekeş, Selahattin; Kelle, AliSitokrom P450 CYP2C9 kliniksel olarak önemli ilaçlardan olan phenytoin, tolbutamide, warfarin, hexobarbital, tienilik asit ve birçok non-steroid anti-enflamatuar ilaçların metabolize olmasında rol oynayan bir enzimdir. Yapılan çalışmalar sonucu aminoasit kompozisyonundaki bir değişikliğin bu enzimin hem aktivitesinde ve hem de substrat spesifitesinde önemli bir etki oluşturabileceği belirtilmektedir. Tek baz değişikliklikleri proteindeki bir aminoasidi bir başka aminoaside değiştirebilir veya bir stop kodonunun oluşumu gibi değişikliklere sebebiyet verebilir. Bu çalışmamızda 150 DNA örneğinde CYP450 2C9 geninin toplam 9 eksonu için PCR amplifîkasyonu, SSCP, heterodupleks analizi ve PCR-RFLP analiz metodlarmı kullanarak olası DNA polimorfîzmlerini tespit etmeyi amaçladık. Tüm örneklerin PCR amplifîkasyonu, SSCP, heterodupleks ve PCR-RFLP analizleri sonucunda 3. eksondaki T4i6->C (Cys 144-» Arg) mutasyonu için 27 DNA örneğinin heterozigot mutant (-/+), 2 DNA örneğinin ise homozigot mutant (+/+) oldukları tespit edildi. Bütün örneklerin yapılan PCR amplifîkasyonu, SSCP, heterodupleks ve PCR- RFLP analizleri sonucu 37 kişinin ekson T deki Ci06i-»A (Leu 359 -» 52Üe) mutasyonu için heterozigot mutant (-/+), l'nin ise homozigot mutant (+/+) olduğu tespit edildi. Diğer eksonlar için yapılan analizler sonucu herhangi bir mutasyon tespit edilmedi.Öğe The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15(Wiley, 2009) Bilgüvar, Kaya; Öztürk, Ali Kemal; Bayraklı, Fatih; Güzel, Aslan; DiLuna, Michael L.; Bayri, Yaşar; Tatlı, Mehmet; Tekeş, Selahattin; 0000-0003-1707-6055Recently, we delineated a syndrome of pachygyria, mentalimpairment, seizures, and arachnoid cysts [Guzel et al., 2007].This syndrome was found in a consanguineous family fromSoutheastern Turkey. The three affected sibs in this family werethe first generation to present with this condition, strongly suggest-ing autosomal recessive inheritance.Öğe The Effect of Dimethyl Sulfoxide on Chromosomal Abnormalities in Human Peripheral Blood Lymphocytes(Veysi AKPOLAT, 2020) Yücel, İlyas; Binici, Mahir; Kavak, Fikriye Fulya; Oral, Diclehan; Tekeş, Selahattin; Balkan, MahmutObjective: The main aim of this study was to examine the effects of dimethyl sulfoxide (DMSO) on chromosomal abnormalities in human peripheral blood lymphocytes. Methods: Peripheral blood samples were collected from two healthy men and two healthy women. Then, in vitro studies were conducted with these blood samples , and the results were cytogenetically analyzed . There were two groups: a DMSO group and a control group. DMSO and control medium were added to the samples at 24 hours and 48 hours. Results: A total of 800 metaphases were examined in this study. Depending on the increase in the number of groups and the time of application, an increase in chromosomal abnormalities was observed, and these were recorded. Conclusion: In many previous studies, the effects of DMSO have been examined in various tissues and the body, but there are fewer studies about the effects on chromosomes. In this study, we researched the effects of DMSO, except for negative effects and toxicity, on chromosomal abnormalities.
