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3. Successful Kidney Transplantation in a Patient with Marfan’s Syndrome with a History of Aortic Dissection Operation and a Dissection Flap Up to the Iliac Bifurcation Level.

Author

Yılmaz, Vural Taner, Kısaoğlu, Abdullah, Demiryılmaz, Ali Avanaz2,İsmail, Uçar, Fahri, Aydınlı, Bülent, and Koçak, Hüseyin

Subjects
MARFAN syndrome, AORTIC dissection, KIDNEY transplantation, DISSECTING aneurysms, AORTIC aneurysms, HEART transplant recipients
Abstract

Marfan’s syndrome is a collagen tissue disease characterized by aortic aneurysm and dissection. In our study, a case who was diagnosed with Marfan’s syndrome had a dissection flap up to the iliac bifurcation level and underwent successful renal transplantation; is presented. A 27-year-old male patient had a history of operations due to 2 aortic dissections. In the physical examination, he had hyperflexible joints, arachnodactyly, a pansystolic murmur in the mitral focus, and severe myopia. Echocardiography revealed enlargement of the aortic root, and a dissection flap extending from the abdominal aorta to the iliac bifurcation was detected in tomographic angiography. Genetic analysis revealed Fibrillin-1 gene exon 66 region c.8384T > C (p.Ile2795Thr) missense heterozygous mutation. The patient, who was diagnosed with Marfan’s syndrome, underwent kidney transplantation from his healthy and non-mutated sibling. There were no vascular complications in the 1-year-period after transplantation, and he is followed up with normal kidney function. In our study, it has been shown that successful kidney transplantation can be performed in a patient with Marfan’s syndrome who has a dissection flap up to the iliac bifurcation level. [ABSTRACT FROM AUTHOR]

Published
2023
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6. CXCR5+ CD8+ Foliküler Sitotoksik T Hücrelerinin Biyolojisi ve Hastalıklar ile İlişkisi .

Author

Ekinci, Nurten Sayın, Darbaş, Şule, and Uçar, Fahri

Subjects
T helper cells, B cells, GERMINAL centers, T cells, IMMUNE system, BRAIN function localization
Abstract

Copyright of Turkish Journal of Immunology is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2022
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8. The relationship between COVID‐19 and HLA in kidney transplant recipients, an evaluation of predictive and prognostic factors.

Author

Ertosun, Mustafa Gökhan, Özkan, Özlenen, Darbaş, Şule, Özel, Deniz, BİLGE, Uğur, Sayin Ekinci, Nurten, Yilmaz, Vural Taner, Uçar, Fahri, Koçak, Hüseyin, and Özkan, Ömer

Subjects
KIDNEY transplantation, PROGNOSIS, HLA histocompatibility antigens, COVID-19, LOGISTIC regression analysis
Abstract

Introduction: The purpose of this study was to determine the predictive and prognostic factors for COVID‐19 infection and its relationship with human leukocyte antigen (HLA) in kidney transplant recipients. Material and method: Three hundred fifty kidney transplant recipients were included in the study. Recipients were divided into two groups: COVID‐19(+) (n = 100) and control (n = 250). The relationships between HLA frequencies, COVID‐19 infection, and prognostic factors (age, donor type, immunosuppression protocol, etc.) were then evaluated. Logistic regression analysis, heatmap, and decision tree methods were used to determine predictive and prognostic factors. The study was performed retrospectively. Results: Advanced age and deceased transplantation emerged as predictive of SARS‐CoV‐2 infection, while the presence of HLA‐A*11, the HLA match ratio, and high‐dose tacrolimus were identified as prognostic factors in kidney transplant recipients. HLA‐A10, HLA‐B*13, HLA‐B22, and HLA‐B*55 were shown to be associated with SARS‐CoV‐2 infection at univariate analysis, and HLA‐B*57, HLA‐DRB1*11, and HLA‐DRB1*13 at logistic regression analysis. Conclusion: HLA‐A10, HLA‐B*13, HLA‐B*55, HLA‐B*57, HLA‐DRB1*11, and HLA‐DRB1*13 were identified for the first time in the literature associated with SARS‐CoV‐2 infection in kidney transplant recipients. [ABSTRACT FROM AUTHOR]

Published
2022
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14. Determination of allelic deletion of multiple endocrine neoplasm type 1 (MEN1) gene in acute myeloid leukemia (AML) by application of FISH-TSA technique

Author

Acar, Hasan, Kaynak, Murat, Uçar, Fahri, Uludağ Üniversitesi/Tıp Fakültesi/Moleküler Biyoloji ve Genetik Anabilim Dalı., Yakut, Tahsin, and Egeli, Ünal

Subjects
Male, Toxicology, In-situ hybridization, Diagnostic accuracy, Tyramide signal amplification, Chromosome 11, AML, hemic and lymphatic diseases, Region, Nucleic acid amplification, Tumor suppressor gene, Child, TSA, Diagnostic value, In situ hybridization, fluorescence, Priority journal, Allele, Heterozygosity, Gene rearrangement, Fluorescence in situ hybridization, Genetics & heredity, Leukemia, myelocytic, acute, Men1 gene, Allelism, Oncology, Ultrastructure, Mutaions, Allelic deletion, Female, Chromosome 11q13, Human, Multiple Endocrine Neoplasia Type 1, Gastrinoma, Neuroendocrine Tumors, Adult, Adolescent, Child, preschool, Clinical article, Support, non-U.S. gov't, Amplification, Color, Chromosome, Carcinomas, Chromosomes, Article, FISH, Genetics, Humans, Multiple endocrine neoplasia, Mll gene, neoplasms, Alleles, Gene deletion, Chromosomes, human, pair 11, DNA, Acute granulocytic leukemia, DNA probe, Preschool child, Chromosome 11q, Head, Controlled study
Abstract

We have used the single and dual color fluorescence in situ hybridization (FISH) technique combined with a new detection system, tyramide signal amplification (TSA), by using the multiple endocrine neoplasm type I (MEN1) gene and chromosome I I specific alpha satellite DNA probes for the study of the allelic deletion of the MEN1 gene. The MEN1 gene is a new tumor supressor gene and has been recently cloned on chromosome 11q13. FISH combined with the TSA detection system was performed on bone marrow interphase nuclei of 22 patients with acute myeloid leukemia (AML). The FISH-TSA analysis revealed the mono allelic deletion of the MEN1 gene in 4 out of 22 patients (18.18%), 2 of 9 AML-M2 patients (22.2%), 1 of 6 AML-M4 patients (16.6%), and I of 4 AML-M5 patients (25.0%). Our study indicates that allelic deletion of the MEN1 gene is not a major cause or a primary event in tumorigenesis of AML, although the long arm (q13 region) of chromosome 11 involves a chromosomal rearrangement in AML.

Published
2002

18. Associations of HLA‐DRB1 alleles with anti‐citrullinated protein antibody‐positive and anti‐citrullinated protein antibody‐negative rheumatoid arthritis in northern east part of Turkey

Author

UÇAR, Fahri, primary, ÇAPKIN, Erhan, additional, KARKUCAK, Murat, additional, YÜCEL, Burcu, additional, SÖNMEZ, Mehmet, additional, ALVER, Ahmet, additional, KAKLIKKAYA, Neşe, additional, TOSUN, Mehmet, additional, ALEMDAROĞLU, Emel, additional, and SOLAK, Mustafa, additional

Published
2011
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20. Malignansi tanısında periferik kan, hücre süspansiyonları ve solid dokularda flow sitometrik DNA ve hücre siklusu analizleri

Author

Uçar, Fahri, Önder, Ekin, and Biyokimya Anabilim Dalı

Subjects
Blood, Biyokimya, Neoplasms, Oncogenes, DNA, Flow cytometry, Cell cycle, Biochemistry
Abstract

ÖZET Bu araştırmada; hematolojik malignansi ön tanılı hastaların kemik iliğinden, mesane kanseri ön tanılı hastaların idrar örneklerinden, lösemi ön tanılı hastaların kan örneklerinden, ayrıca tümör ön tanılı çeşitli dokuların taze, formolde fikse ve parafinli örneklerinden mekanik ve enzimatik (pepsinli) olarak, meme kanseri tanısı konmuş arşiv materyalinden de retrospektif çalışmalarla flow sitometrik DNA content (içerik) ve hücre siklusu analizleri yapılmıştır. Çalışmada çeşitli şartların metoda, varyasyon katsayısına (CV), aggregat ve debris oranına, S faz, S2/M ve DNA indekslerine etkileri araştırılmıştır. Periferik kan ve idrar numunelerinin varyasyon katsayısı kemik iliği numunelerinden daha küçük bulunmuştur. örneklerden 15.000 - 35.000 hücre sayılmış, aggregat ve debris oranları 7.1. 00' den küçük bulunmuştur. Solid dokularda enzimatik - mekanik gruplar arasında CV değerleri farklı bulunmuş, en küçük CV değeri taze enzimatik gruptan elde edilmiş, istatiksel olarak amlamlıdır. Tümörlerin DNA ploidisi tüm numunelerde aynı bulunmuştur. DNA indeksleri bütün gruplarda benzer çıkmış, diploidlerde hiç değişme olmazken, aneuploidlerde değişiklikler görülmüş, ancak taze numunelerde daha küçük değerler elde edilmiştir. Solid dokuların farklı gruplarında analiz edilen ortalama hücre sayısı 20.000 dir. S ve G2M fazlarında tüm gruplarda değişiklikler gözlenmiş istatiksel olarak anlamlı bulunmamıştır. Retrospektif parafinli meme örneklerinden enzimatik çalışma ile daha hassas sonuçlar elde edilmiştir. Elde ettiğimiz verilerden yola çıkarak flow sitometrik DNA ve hücre siklusu analizi tüm dokulardan yapılabilir, ancak tek hücre süspansiyonlarında, taze solid dokularda enzimatik olarak daha hassas sonuçlar sağlanır. Anahtar Kelimeler: Flow sitometri, DNA içeriği, DNA indeksi, S- faz, proliferatif indeks, taze, formolde fikse, parafinli doku örnekleri, tek hücre süspansiyonları, enzimatik-mekanik çalışma SUMMARY In this study, the flow cytometric DNA content and cell cycle analysis technique was used on the bone marrow, urine, and blood samples which are taken from 30 human tumors. Also, this technique was applied by the using of mechanic and enzymatic (pepsin) method, on the fresh, formalin fixed, and paraffin embedded samples which are taken from the same part of 10 human tumors. In addition, 10 archive materials were used same technique. In the study, the effecs of the different condition on the method, coefficient of variation (CV), rate of aggregation and debris, S-phase, G2M» and DNA indices were investigated. The coefficient of variation values of peripheral blood and urine samples were less than bone marrow. Between enzymatic and mechanic groups the CV values were different at the solid tumors. The small CV values were obtained from the fresh enzymatic group. This is istatically meaningful (P

Published
1994

21. Inflammatory cytokine gene polymorphism profiles in Turkish patients with ulcerative colitis.

Author

Gök, İlhami, Uçar, Fahri, and Ozgur, Orhan

Subjects
*CYTOKINE genetics, *GENETIC polymorphisms, *ULCERATIVE colitis, *ULCERATIVE colitis diagnosis, *GASTROENTEROLOGY, *PATIENTS
Abstract

Aim To investigate IL-1α, IL-1β, IL-1R, IL-4RA, TGF-β, TNF-α and IFN-γ, genes polymorphism in Turkish patients with ucerative colitis (UC). Methods An analysis was carried out at Trabzon Karadeniz Technical University Medicine Faculty Gastroenterology polyclinics between March 2005 and May 2011 on 51 patient with UC (cases) and 100 healthy individuals (controls). PCR-SSP and cytokine gene panel (Helder-berg kits) based techniques for analysis of gene polymorphisms were used. Results Changes in allelic frequencies of each of the investigated eight cytokine genes polymorphisms in patient with ulcerative colitis were found. Among the allelic genes analyzed here, the highest statistically significant change was observed in the position TNF-γ -308 G/A (339.7%). The following increases were observed in IL-IR mspa T/C variation (179.4%), IFN-γ 5644A/T variation (77.4%), and in IL-1β -511 T/C SNPs (35.9%). In other analyzed genes, allelic changes were found to be decreasing for TGF-β codon10C / T (-71.9%), IL4RA + 1902G / A (-47.3 %), and for IL-1α -889T / C (-37.7%). The lowest negative change (-25.9%) was observed in the allele frequency in IL-1β 3962T / C (p<0.000). In addition, there were changes in genotypic frequencies investigated seven gene polymophic site and only one of cytokine gene IL-1β 3962TT/TC/CC was not changed. Conclusion Genes polymorphism is not itself the only determining factor for clinical diagnoses. However, it can be used in the clinical diagnosis of UC in order to determine the low level or high level variations in cytokine gene polymorphisms. [ABSTRACT FROM AUTHOR]

Published
2015

22. Cinsiyet kromatini (barr cisimciği) tayini ve non-fonksiyonel x-kromozomlarının klinik tanıda kullanılması ve önemi

Author

Uçar, Fahri, Karagüzel, Ahmet, and Tıbbi Biyoloji Anabilim Dalı

Subjects
X chromosome, Sex chromatin, Diagnosis, Chromosome aberrations, Medical Biology, Tıbbi Biyoloji
Abstract

ÖZET Bu araştırma, 9 aylık bir periyodda KTÜ. Farabi Hastanesi Çocuk Sağlığı ve Hastalıkları, Üroloji ve Kadın Doğum Polikliniklerine başvuran 2070 hastadan cinsiyet anomalisi şüphesiyle anabilim dalımıza gönderilen 12 hasta üzerinde yapılmıştır. Yapılan metodolojik çalışmalar sonucunda laboratuvarımızda rutin olarak uygulanan cinsiyet kromatini (Barr Body) yönünden hastalar incelenmiştir. Bu hastalardan 6 adedinde cinsiyet anomalisi, cinsiyet kromatini yönünden doğrulanmıştır. Bu hastalardan 5 adet kız hastadan 4 ü X-kromatini negatif (% 0.00). Turner sendromu, 1 adedi (% 7.00) mozayik ve 7 adet erkek hastadan 1 adedi (% 20.00) interseks olarak belirlenmiştir. Diğer 6 hasta için ise, diğer etkili faktörleri belirlemek için kromozom analizi önerilmiştir. Gelen hastalardan 9 adedinin akraba evliliği sonucu doğduğu ve anne-baba yaşlarının yüksekliğinin anomali oluşumunda etkili faktörler olduğu tespit edilmiştir. Anahtar Kelimeler : Cinsiyet kromatini (Barr Body), X-kromatini), X- kromozomu inaktivasyonu, Lyon hipotezi, Dosaj- komp enzasyonu SUMMARY In this study, sexual abnormalities and X-chromatins of patients who were researched with Barr Body analysis which was developped from Barr and Bertram. The studies included 1060 females and 1010 males with a total of 2070. Total patients were 12 (5 females, 7 males). Results of the incidences of X chromatin abnormalities as follows; Four of five female patients were Turner Syndrome (X-chromatin negative) and one female patient has mosaic Turner syndrome. One of seven male patients was intersex person (20 % X-chromatin). Thıfs? X-chromatin and sexual abnormalities have tought to be depended on consaguinity, genetic factors and high parental age. Key words : X-chromatin (Barr body)( inactivation of X chromosome, Lyon hypothesis, dosaj -compensation. 43

Published
1990

30. Accuracy of HLA-DQ genotyping in combination with IgA anti-tissue transglutaminase serology and a "scoring system" for the diagnosis of celiac disease in Turkish children.

Author

Çakır, Murat, Baran, Maşallah, Uçar, Fahri, Akbulut, Ulaş Emre, Kaklıkkaya, Neşe, and Ersöz, Şafak

Abstract

The aim of the study was to analyze the accuracy of (i) HLA-DQ typing and anti-tissue transglutaminase antibodies immunoglobulin A (tTG-IgA) serology and (ii) a "simple scoring system" (SSS) for the diagnosis of celiac disease (CD). The study included 91 patients with positive tTG-IgA, who had been tested for HLA-DQ. Patients were divided into 3 groups: typical CD, atypical CD, and non-CD. The sensitivity, specificity, positive (PPV) and negative predictive value (NPV), positive (PLR) and negative likelihood ratio (NLR) and accuracy of the test combining genotyping and tTG-IgA positivity and the simple scoring system for the diagnosis of CD were evaluated. The combination of genotyping and strong tTG-IgA positivity had a sensitivity of 93.5%, specificity of 61.5%, PPV of 93.5%, NPV of 61.5%, PLR of 2.4, NLR of 0.1 and accuracy of 89% for "CD." SSS had a higher specificity (84.6%), higher PPV (97.3%), higher NPV (68.7%), higher PLR and higher accuracy (92.3%). The combination of genotyping and strong tTG-IgA positivity missed two patients with typical CD (4%) and three patients with atypical CD (10.7%). Two cases with malabsorptive symptoms (33.3%) and three patients without malabsorptive symptoms (42.8%) would have been misdiagnosed as CD if these tests were used. Intestinal biopsy is still mandatory for diagnosis of CD in Turkish children. [ABSTRACT FROM AUTHOR]

Published
2014

34. Determination of allelic deletion of multiple endocrine neoplasm type 1 (<TOGGLE>MEN1</TOGGLE>) gene in acute myeloid leukemia (AML) by application of FISH-TSA technique

Author

Acar, Hasan, Kaynak, Murat, Yakut, Tahsin, Uçar, Fahri, and Egeli, Ünal

Abstract

We have used the single and dual color fluorescence in situ hybridization (FISH) technique combined with a new detection system, tyramide signal amplification (TSA), by using the multiple endocrine neoplasm type 1 (MEN1) gene and chromosome 11 specific alpha satellite DNA probes for the study of the allelic deletion of the MEN1 gene. The MEN1 gene is a new tumor supressor gene and has been recently cloned on chromosome 11q13. FISH combined with the TSA detection system was performed on bone marrow interphase nuclei of 22 patients with acute myeloid leukemia (AML). The FISH-TSA analysis revealed the mono allelic deletion of the MEN1 gene in 4 out of 22 patients (18.18%), 2 of 9 AML-M2 patients (22.2%), 1 of 6 AML-M4 patients (16.6%), and 1 of 4 AML-M5 patients (25.0%). Our study indicates that allelic deletion of the MEN1 gene is not a major cause or a primary event in tumorigenesis of AML, although the long arm (q13 region) of chromosome 11 involves a chromosomal rearrangement in AML. Teratogenesis Carcinog. Mutagen. 22:369–375, 2002. © 2002 Wiley-Liss, Inc.

Published
2002
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35. Diffüz büyük B hücreli lenfoma hastalarında PD-1 ve CTLA-4 gen varyasyonları ile ekspresyon seviyelerinin ilişkisi

Author

Arslan, Habibe Sema, Tıbbi Biyoloji ve Genetik, Uçar, Fahri., and Sağlık Bilimleri Enstitüsü

Abstract

Diffüz Büyük B Hücreli Lenfoma (DBBHL) klinik, morfolojik ve sitogenetik özellikler bakımından heterojendir. Non-Hodgkin lenfomaların en sık karşılaşılan agresif seyirli tipidir. Lenfomanın tedavi stratejilerinden biri olan immünoterapi, immün kontrol noktası inhibitörlerini hedef alır. Birçok hastalıklara ilişkin PD-1, PD-L1, CTLA-4 ve CD80 genlerinin araştırılması fenomen haline gelmiştir. Bu tezin amaçları DBBHL'de i) çeşitli kanser türleriyle önemli ilişkileri olan bu dört genin polimorfizmleri incelemek, ii) gözlenen genetik varyantların mRNA ekspreyon ve protein seviyeleriyle korelasyonunu değerlendirmek, iii) bulgular doğrultusunda hastalığın patogenezine katkıda bulunmaktır. Yöntem: Bu araştırmada, 20 kişilik hasta grubuyla aynı yaş ve cinsiyette olan 20 kişilik kontrol gruplarına ait periferik kan örneklerinden DNA dizileme yöntemi kullanılarak PD-1, PD-L1, CTLA-4 ve CD80 genlerindeki ilgilenilen polimorfizmler saptandı. Gerçek Zamanlı Kantitatif PZR yöntemi kullanılarak hedef genlerin ifade seviyeleri belirlendi. Akış Sitometri yöntemiyle hedef hücrelerin ekspresyon (%) düzeyleri değerlendirildi. Verilerin değerlendirilmesinde IBM SPSS Statistics for Windows Version 22 ve R.3.3.2 yazılımlarından yararlanıldı. Bulgular: Hastalarda PD-1, PD-L1 ve CTLA-4 ekspresyon seviyesi, kontrol grubuna göre daha yüksekti. PD-1 (rs2227981), PD-L1 (rs4143815) ve CTLA-4 (rs231775) polimorfizmleri, bu genlerin ekspresyon seviyeleriyle ilişkili olabilir. Akış Sitometri sonuçlarına göre hastalarda kontrol grubuna kıyasla sadece CD4+PD-1+ ve CD4+PD-L1+ hücre ekspresyon (%) düzeyleri anlamlı bulundu. Sonuç: DBBHL'de PD-1, PD-L1 ve CTLA-4 gen polimorfizmleri ve buna bağlı PD-1, PD-L1 ve CTLA-4 ifadelerinin tespiti önemlidir. Elde ettiğimiz bulgular ışığında, bu genlerin DBBHL patogenezinin ve prognozunun anlaşılmasına katkı sağlayabileceğine inanmaktayız.

Published
2021

36. Böbrek transplantasyonunda cross match testlerinin sonuçları ile HLA allelleri arasındaki ilişkinin araştırılması

Author

Özbay, Münevver, Uçar, Fahri, and Tıbbi Biyoloji ve Genetik Anabilim Dalı

Subjects
Kidney transplantation, Kidney diseases, Organ transplantation, Blood grouping and crossmatching, Genetics, Kidney failure-chronic, Flow cytometry, HLA antigens, Genetik, Histocompatibility testing, Medical Biology, Tıbbi Biyoloji
Abstract

Amaç: Organ nakli öncesinde yapılan immunogenetik testlerden alıcı ile verici arasındaki çaprazlama testleri organ nakilleri ve özellikle de böbrek nakilleri için son derece önemlidir. Bu çalışmada kronik böbrek yetmezliği (KBY) tanısı almış hastaların HLA allel frekansları ile en duyarlı çaprazlama yöntemi kabul edilen Luminex DSA çaprazlama sonuçları arasında bir ilişki olup olmadığının araştırılması amaçlanmıştır. Bu amaçla, 2015 ila 2018 yılları arasında yapılan 586 hastaya ait Luminex-DSA sonuçları ile HLA allel frekansları geriye dönük olarak analiz edilmiştir. Yöntem: Hasta ve verici adaylarının HLA-A, B, DRB1 doku tipinin belirlenmesi PCR-SSOP -Luminex yöntemi ile (Gen-Probe) Lifecodes HLA kitleri kullanılarak yapıldı. Çaprazlama testi için Luminex DSA metodu üreticinin protokolüne göre yapıldı. İstatistiki analizler için SPSS Statistics 23.0 ve Arlequin v3.5.2.2 programları kullanıldı. Bulgular: KBY hastalarında HLA-A*02 (%22), A*24 (%16), A*03 (%11), HLA-B*35 (%17), B*51 (%14), HLA-DRB1*11 (%22), DRB1*04 (%18) ve DRB1*03 (%11) en sık görülen alleller olarak saptanmıştır. Hastalar ile donörler arasında yapılan Lum-DSA XM testlerinin %14 (n=82)'ünün pozitif, %86 (n=502)'sının negatif olduğu görüldü. İstatistiksel analizlerin sonucuna göre, HLA-A*29 (p=0.003), HLA-B*08 (p=0.036), HLA-DRB1*01 (p=0.001) ve HLA-DRB1*03 (p=0.0384) allelleri ile Lum-DSA XM arasında pozitif ilişki bulundu.Sonuç: Kronik böbrek hastalarından elde ettiğimiz çalışma sonuçlarımıza göre Luminex DSA- XM yöntemi ile HLA allel frekansı arasındaki pozitif ilişkili allellerin belirlenmesi literatüre katkı sağlayacaktır.Anahtar Kelimeler: HLA allel frekansı, flowsitometrik cross-match, lenfosit crossmatch, luminex cross-match, organ nakli Objective: Crossmatching as part of the immunogenetical testing is very important prior to organ transplantation, particularly kidney transplantation. The aim of this study was to investigate whether there was an association between frequencies of HLA alleles in chronic kidney disease patients and the results of Luminex DSA crossmatching, considered to be most sofisticated crossmatching method. For this purpose, results of Luminex-DSA-crossmatching tests, performed between 2015 and 2018, belonging to 586 patients were retrospectively analysed.Method: HLA typing of donor and recipient candidates were performed by using PCR-SSOP-luminex method (Gen-Probe) with Lifecodes HLA kits. For crossmatching, Luminex DSA method was performed according to manufacturer's instruction. For statistical analysis SPSS Statistics 23.0 and Arlequin v3.5.2.2 programs were used.Results: In CKD patients, HLA-A*02 (22%), A*24 (16%), A*03 (11%), HLA-B*35 (17%), B*51 (14%), HLA-DRB1*11 22(%), DRB1*04 (18%), DRB1*03 (11%) were determined to be as the most frequent alleles. Luminex DSA XM test results between donor and recipients were determined to be 14% positive and 86% negative. Statistical analysis demonstrated a positive correlation between HLA-A*29 (p=0.003), HLA-B*08 (p=0.036), HLA-DRB1*01 (p=0.001), HLA-DRB1*03 (p=0.0384) alleles and Luminex DSA XM. Conclusion: Positive relationship between frequency of HLA alleles and Luminex DSA XM method we observed in CKD patients will contribute to the literature.Keywords: Frequency of HLA alleles, Lymphocyte cross match, flow cytometric crossmatch, luminex cross-match, organ transplantation 83

Published
2019

37. Kronik böbrek yetmezliği hastalarının etiyolojilerine göre hla doku tipinin belirlenmesi ve antikor düzeylerinin araştırılması

Author

Karakuş, Burcu, Uçar, Fahri, Tıbbi Biyoloji ve Genetik Anabilim Dalı, Tıbbi Biyoloji ve Genetik, Fahri Uçar, and Sağlık Bilimleri Enstitüsü

Subjects
Nefroloji, Kidney diseases, Nephrology, Genetics, Kidney failure-chronic, HLA antigens, Genetik, Antigens, Medical Biology, Antibodies, Tıbbi Biyoloji
Abstract

Amaç:Bu çalışma kronik böbrek hastalığı tanısı almış 1079 hastanın ve 1111 sağlıklı kontrol bireylerinin HLA allel dağılımı ile etiyolojik alt tiplerinin ilişkili olup olmadığı araştırılması amaçlanmıştır. Ayrıca greft yetmezliği ve rejeksiyon gelişimine neden olduğu bilinen anti-HLA antikorlarının varlığı ile HLA allelerinin bir bağlantısının olup olmadığı araştırılması hedeflenmiştir. Yöntem:HLA-A, B, DRB1 alellerinin belirlenmesi PCR-SSOP ve Luminex yöntemi ile (Gen-Probe) Lıfecodes HLA-A, B, DR kitleri kullanarak yapıldı. PRA (panel reaktif antikor) testi HLA Sınıf I ve II antijenlerine karşı oluşan immunoglobulin G (IgG) antikorlarının tespiti için dizayn edilmiş boncuk temelli bir immunoassay bir yöntem olan Luminex yöntemiyle yapıldı. İstatistiksel analiz için Arlequin v3.5.1.2 kullanıldı.Bulgular: Kronik böbrek hastası bireylerinin tamamının olduğu grupta yapılan istatistiksel verilere göre HLA-A*01 (p=0.0002), HLA-A*03 (p=0.003), HLA-A*11 (p=0.0007), HLA-B*35 (p=0.001), HLA-B*27 (p=0.001), HLA-B*57 (p=0.005), HLA-DRB1*01(p=0.001), HLA-DRB1*04 (p=0.009), HLA-DRB1*14 (p=0.001) hastalıkla pozitif ilişkili bulunmuştur. HLA-A*02 (p=0.001), HLA-A*24 (p=0.0001), HLA-A*26 (p=0.0001), HLA-B*07 (p=0.001), HLA-B*08 (p=0.003), HLA-B*51 (p=0.001), HLA-DRB1*13 (p=0.001), DRB1*11 (p=0.001), HLA-DRB1*03 (p=0.001) alleleri hastalıkla negatif ilişkili olarak bulunmuştur. Hastalığın etiyolojik alttiplerinde daha farklı sonuçlar elde edilmiştir.Sonuç: Çalışma sonuçlarımızdan elde ettiğimiz hastalıkla pozitif veya negatif ilişkili HLA allellerinin alttiplerinin belirlenmesi literature katkı sağlayacaktır. HLA allelleri ve PRA pozitifiliği arasındaki ilişkinin aydınlatılması nakil başarısında önemli rol alacaktır. Objective: The aim of this study was to investigate the association of HLA allele distribution with etiologic subtypes in 1079 patients with chronic kidney disease and 1111 healthy controls. It was also aimed to investigate the association of HLA alleles with the presence of anti-HLA antibodies known to cause graft failure and rejection development.Method: HLA-A, B, DRB1 allels were determined (PRA) by PCR-SSOP method and Luminex (Gen-Probe) LIFECODES HLA-A, B, DR kits. PRA TEST for the detection of G (IgG) antibodies against HLA class I and class II antigens was performed by the luminex method which was designed as A bead-based immunoassay. For statistical analysis, arlequin v3.5.1.2 was used.Results: Statistical data suggest that the etiologic subgroups of patients with CKD HLA-A*01 (p=0.0002), HLA-A*03 (p=0.003), HLA-A*11 (p=0.0007), HLA-B*35 (p=0.001), HLA-B*27 (p=0.001), HLA-B*57 (p=0.005), HLA-DRB1*01(p=0.001), HLA-DRB1*04 (p=0.009), HLA-DRB1*14 (p=0.001) alleles are positively associated with disease, HLA-A*02 (p=0.001), HLA-A*24 (p=0.0001), HLA-A*26 (p=0.0001), HLA-B*07 (p=0.001), HLA-B*08 (p=0.003), HLA-B*51 (p=0.001), HLA-DRB1*13 (p=0.001), DRB1*11 (p=0.001), HLA-DRB1*03 (p=0.001) alleles were found to be negatively related. Different results were obtained in the etiologic subtypes of the disease.Conclusion: HLA alleles with positive or negative association with the disease from our study results will contribute to the literature. Shedding light to the relationship between PRA positivity and HLA alles will have an importamt role in transplant success. 108

Published
2017

38. Kronik böbrek hastalığının etiyolojilerine göre HLA doku tiplerinin araştırılması

Author

Cansiz, Abide, Uçar, Fahri, and Tıbbi Biyoloji Anabilim Dalı

Subjects
Kidney diseases, Etiology, HLA A antigens, Kidney failure-chronic, Genes-MHC-class 1, Tissue types, Medical Biology, Alleles, Tıbbi Biyoloji, Polymerase chain reaction
Abstract

Kronik Böbrek Hastalığı (KBH) farklı etiyolojik nedenlere bağlı olarak gelişen kronik, progressif ve geri dönüşümsüz nefron kaybı ile karakterize nefrolojik bir sendrom olarak bilinmektedir.Çalışmamız KBH'li hastaların etiyolojik dağılımı ve sıklığını belirleyerek hastalarının HLA allel dağılımını araştırmak amacıyla yapılmıştır. Bu amaçla çalışmamıza Karadeniz Teknik Üniversitesi Tıp Fakültesi Nefroloji Bilim Dalı Organ Nakli Polikiliğinde KBH tanısı almış 237 hasta ve 550 sağlıklı kontrol bireyi dahil edilmiştir. Hastaların periferal kan örneklerinden elde edilen DNA'ların PCR-SSO (Polimeraz zincir reaksiyonu-Diziye özgü oligonükleotid) Luminex yöntemi kullanılarak HLA-A, B, DRB1 tiplendirmesi yapılmıştır. Elde edilen sonuçlara göre bölgemizde KBH'li hastalarda en sık görülen nedenler hipertansiyon, glomerülonefritler, obstrüktif nefropati, diyabetik nefropati ve polikistik böbrek hastalığı (PKBH) olarak sıralanmıştır. KBH'li hastalarda en sık HLA-A*02, B*35 ve DRB1*11 allelleri gözlenmiş ve HLA-A*26 (p=0.018) ve HLA-B*08 (p=0.044) alleli hastalıkla pozitif ilişkili, HLA-B*37 (p=0.048) alleli ise hastalıkla negatif ilişkili olarak bulunmuştur. Glomerülonefritli hastalarda HLA-B*08 (p=0.012) ve HLA-DRB1*04 (p=0.024) allelleri, diyabetik nefropatili hastalarda HLA-A*25 (p=0.009), A*69 (p=0.009), B*08 (p=0.006) ve DRB1*03 (p=0.003) allelleri, obstrüktif nefropatili hastalarda HLA-B*51 (p=0.042) ve B*55 (p=0.027) allelleri, PKBH'li hastalarda HLA-A*25(p=0.007), A*26 (p=0.006), A*30 (p=0.034) allelleri, diğer hastalarda HLA-A*26 (p=0.032) alleli hastalıkla pozitif ilişkili bulunmuştur. Sadece PKBH'li hastalarda HLA-DRB1*11 (p=0.033) alleli hastalıkla negatif ilişkili bulunmuştur. Çalışmamızın sonuçları literatüre önemli katkı sağlayacaktır.Anahtar Sözcükler: Allel dağılımı, MHC, PCR-SSO, Son dönem böbrek yetmezliği Chronic Kidney Disease (CKD) is known as a chronic, progressive renal syndrome, characterized with irreversible loss of nephrons and is developed by various etiologic factors.This study was conducted to determine etiologies and their frequencies in patients with CKD, and to find out the HLA allele frequencies in the patients with known etiology. 237 CKD patients diagnosed in the Karadeniz Technical University, School of Medicine Department of Nephrology, Organ Transplantation Clinic were included in this study with 550 healthy control subjects. HLA-A, B and DR genotyping was performed by PCR-SSO (Polymerase Chain Reaction, Sequence Specific Oligonucleotide) Luminex method using genomic DNA samples obtained from peripheral blood samples. Our results showed that most frequent etiologic factors in patients with CKD in this region are hypertension, glomerulonephrit, obstructive nephropathy, diabetic nephropathy and polycystic kidney disease (PCKD), respectively. Most frequent alleles were HLA-A*02, B*35 ve DRB1*11 in patients with CKF. HLA-A*26 (p=0.018) and HLA-B*08 (p=0.044) alleles were found positively associated with the disease, while HLA-B*37 (p=0.048) allele was negatively associated in CKD patients. HLA-B*08 (p=0.05) and HLA-DRB1*04 (p=0.024) alleles in patients with glomerulonephritis, HLA-A*25 (p=0.009), A*69 (p=0.009), B*08 (p=0.006) and DRB1*03 (p=0.003) alleles in diabetic nephropathy patients, HLA-B*51 (p=0.042) and B*55 (p=0.027) alleles in patients with obstructive nephropathy, HLA-A*25 (p=0.007), A*26 (p=0.006), A*30 (p=0.034) alleles in patients with PCKD, HLA-A*26 (p=0.032) allele in the other CKD patients were found positively associated with the diease. Only in PCKD patients, HLA-DRB1*11 (p=0.033).allele was found negatively associated with the disease. Our study will contribute to literatüre.Key words: Allele distribution, PCR-SSO, MHC, End stage renal disease (ESRD) 63

Published
2014

39. Bölgemizdeki ankilozan spondilitli hastalarda HLA-B*27 alt tiplemesi ve hastalık aktivasyonu ile ilişkisi

Author

Mollamehmetoğlu, Sibel, Uçar, Fahri, and Tıbbi Biyoloji Anabilim Dalı

Subjects
Spondylitis-ankylosing, Genetics, Genetik, HLA B27 antigen, Alleles, Polymerase chain reaction
Abstract

Ankylosing Spondilitis (AS) [MIM 106300] is a chronic, systemic and inflammatory disease with unknown exact etiology, defined with the presence of pain in joints, progressive joint stiffness and inflammation in sacroiliac joints. This study was aimed to search for HLA-B*27 allele frequency and the distribution of HLA-B27 subtypes in DNAs obtained from blood samples of 121 AS patients (72 male and 49 female) and 20 subjects out of a control group consist of 400 healthy people using PCRSSP method.HLA-B27 positivity was determined at 95.05% frequency in AS patient group while it was 5% in the control group. HLA B*2701, B*2702, B*2705, B*2707, B*2708, B*2712, B*2723, B*2731, B*2740, B*2748, B*2756 subtypes were detected in AS patients. In the control group, B*2702, B*2705, B*2756 subtypes and differently from AS group, B*2753 subtype was found. The most frequent subtype was HLAB27*56 (68.7%) in AS patient group. In addition, HLA-B*2702 with 19.1% frequency, HLA-B*2748 with 2.60% frequency, HLA-B*2701, B*2705 and B*2740 with 1.74% frequency, HLA-B*2707, B*2708, B*2712 B*2723 and B*2731 with 0.87% frequency were found. HLA-B*2705 was the most frequent subtype which was 38.1% in the control group followed by HLA-B*2702 and B27*56 subtypes with 28.5% frequency and HLA-B*2753 subtype with 4.76% frequency were detected.In conclusion, HLA-B*27 positivity was seen at 95.05% frequency in AS patients in our region. The frequency of HLA-B*2756 subtype was detected significantly higher in AS patients compare to control group (68.7% vs. 37.5%; P=0.003). This result suggests that HLA-B*2756 might have a role in susceptibility to AS disease. As HLAB*2705 subtype was seen higher (38.1%) in the control group, there might be negative association between the disease and the subtype.Key words: Allele distribution, Ankylosing Spondilitis, HLA-B*27, PCR-SSP Ankylosing Spondilitis (AS) [MIM 106300] is a chronic, systemic and inflammatory disease with unknown exact etiology, defined with the presence of pain in joints, progressive joint stiffness and inflammation in sacroiliac joints. This study was aimed to search for HLA-B*27 allele frequency and the distribution of HLA-B27 subtypes in DNAs obtained from blood samples of 121 AS patients (72 male and 49 female) and 20 subjects out of a control group consist of 400 healthy people using PCRSSP method.HLA-B27 positivity was determined at 95.05% frequency in AS patient group while it was 5% in the control group. HLA B*2701, B*2702, B*2705, B*2707, B*2708, B*2712, B*2723, B*2731, B*2740, B*2748, B*2756 subtypes were detected in AS patients. In the control group, B*2702, B*2705, B*2756 subtypes and differently from AS group, B*2753 subtype was found. The most frequent subtype was HLAB27*56 (68.7%) in AS patient group. In addition, HLA-B*2702 with 19.1% frequency, HLA-B*2748 with 2.60% frequency, HLA-B*2701, B*2705 and B*2740 with 1.74% frequency, HLA-B*2707, B*2708, B*2712 B*2723 and B*2731 with 0.87% frequency were found. HLA-B*2705 was the most frequent subtype which was 38.1% in the control group followed by HLA-B*2702 and B27*56 subtypes with 28.5% frequency and HLA-B*2753 subtype with 4.76% frequency were detected.In conclusion, HLA-B*27 positivity was seen at 95.05% frequency in AS patients in our region. The frequency of HLA-B*2756 subtype was detected significantly higher in AS patients compare to control group (68.7% vs. 37.5%; P=0.003). This result suggests that HLA-B*2756 might have a role in susceptibility to AS disease. As HLAB*2705 subtype was seen higher (38.1%) in the control group, there might be negative association between the disease and the subtype.Key words: Allele distribution, Ankylosing Spondilitis, HLA-B*27, PCR-SSP 64

Published
2013

40. Romatoid artritli hastalarda HLA-DRB1 allel dağılımı ve HLA-drb1*04 at gruplarının belirlenmesi

Author

Alemdaroğlu, Emel, Uçar, Fahri, and Tıbbi Biyoloji Anabilim Dalı

Subjects
Genes, Arthritis, HLA antigens, Arthritis-rheumatoid, Genes-MHC-class 1, Medical Biology, Alleles, Tıbbi Biyoloji, HLA DR antigens, Polymerase chain reaction
Abstract

Romatoid artirit (RA [MIM 180300]), genetik ve çevresel faktörlerin etkileşimiyle ortaya çıkan kompleks, poligenik otoimmun bir hastalıktır. Kronik inflamasyon ile seyreden RA, periferik eklemlerde ve çevresinde ilerleyici harabiyete sebep olur. Tüm toplumlarda görülebilen hastalığın prevalansı (%1-3) değişken, biyocoğrafik dağılımı heterojen ve HLA DRB1 alleleriyle olan ilişkisi de evrensel değildir. Bu çalışma 88 RA hastasının (18 E, 70 K, yaş ort. 52 ? 12) ve kontrol grubu olarak 197 sağlıklı bireyin DNA örneklerinden PCR-SSP yöntemiyle HLA-DRB1 allel frekansı ve DRB1*04 alt tiplerinin dağılımının belirlenmesi amacıyla yapıldı.Bölgemizdeki RA hastalarında ve kontrol grubunda 13 farklı çeşit HLA-DRB1 alleli belirlenmiş, DRB1 *17 ve *18 allelleri her iki grupta da saptanamamıştır. Allel frekansları yönünden HLA-DRB1 *04 allelinin hastaların % 45'inde taşındığı gözlenmiş, daha sonra HLA-DRB1 *11, DRB1 *13, DRB1 *01, DRB1 *09 ve DRB1 *10 (sırasıyla %21.59, %20.45, %18.18, %14.77 ve %12.5) en sık gözlenen alleller olduğu belirlenmiştir. Sağlıklı kontrol grubunun % 35.53'ünün HLA-DRB1 *11 alleli taşıdığı gözlenmiş, en sık görülen diğer alleller sırasıyla HLA-DRB1 *13, DRB1 *04, DRB1 * 07, DRB1 *15, DRB1 *16 ve DRB1 *14 (sırasıyla %24.36, %29.94, %19.28, %16.75, %14.21 ve %12.69) olarak saptanmıştır. HLA-DRB1 *04 alleli taşıyanların DNA örneklerinden PCR-SSP High resolution yöntemiyle elde edilen sonuçlara göre; RA hastalarında 8, kontrol grubunda 6 farklı DRB1 *04 alt tipi gözlenmiştir. Hasta grubunda *0401 (%42.50), kontrol grubunda ise, DRB1 *0402 (%55.55) ve *0403 (%16.67) en sık gözlenen predominant alt tipler olarak bulunmuştur.Sonuç olarak bölgemizdeki RA hastalarında yaptığımız araştırmanın bulgularının istatiksel analizinin ışığında; hem taşıyıcılık oranına, hem de allel frekanslarına göre, HLA-DRB1 *01 (P = 0.009), DRB1 *04 (P = 0.011), *0401 (P = 0.028) ve DRB1 *09 (P = 0.0001) alleleri RA ile ilişkili bulunmuştur. Kontrol grubunda ise DRB1 *07 (P = 0.025), DRB1 *11 (P = 0.027), DRB1*0402 (P = 0.001) ve *0403 (P = 0.048) yüksek bulunmuş ?koruyucu allel? olarak kabul edilmiştir. RA hasta ve kontrol grubumuzda allel frekansları Hardy-Weinberg kuralına uyum göstermiştir.Anahtar kelimeler: Romatoid arthrit, HLA-DRB1, allel dağılımı, PCR-SSP Rheumatoid arthritis (RA: MIM:180300), created by the interrelationships between the genetic and environmental factors, is a complex and polygenic otoimmun diseases. It develops with chronic inflammation and thus causes to peripheral joints and advanced erosive in its surroundings. Appeared in all population around the world, the prevalence of RA varies around 1%-3%, its biogeographic distribution is heterogen and its relations to HLA-DRB1 alleles is not universal. This study is conducted using PCR-SSP methods with DNA samples of 88 RA patients and 197 healthy controls to determine HLA-DRB1 allele frequencies and distribution DRB1 *04 subgroups.Except HLA-DRB1 *17 and DRB1 *18 alleles in each group, 13 different HLA-DRB1 alleles were determined in all RA patients and control groups. It was observed that 45% of the RA patients has HLA-DRB1 *04 allele frequencies. Other alleles frequently observed in RA patients are DRB1 * 11, DRB1 *13, DRB1 *01, DRB1 *09 and DRB1 *10 with the frequencies of 21.59%, 20.45%, 18.18%, 14.77%, and 12.5% respectively. It was also observed that 35.53% of the control groups are HLA-DRB1 *11 allele frequencies. Other alleles frequently observed in control groups with HLA-DRB1 *13, DRB1 *04, DRB1 *07, DRB1 *15, and DRB1 *16 with the frequencies of 24.36%, 29.94%, 19.28%, 16.75%, and 14.21% respectively. We have also investigated RA patients and control groups with HLA-DRB1 *04 subgroups using high resolution PCR-SSP method. Eight different DRB1 *04 subgroups in RA patients and 6 different DRB1 *04 subgroups in control groups were determined. DRB1 *0401 (42.50%) in RA patients, and DRB1 *0402 (55.55%) and DRB1 *0403 (16.67%) in control groups were determined as predominant subgroups.In conclusion, the statistical analysis conducted in RA patients of our region indicated that HLA-DRB1 *01 (P=0.009), DRB1 *04 (P=0.011), DRB1 *0401 (P=0.028) and DRB1 *09 (P=0.0001) alleles are associated with RA in terms of both transmission rate and allele frequencies. In control groups, however, HLA-DRB1 *07 (P=0.025), DRB1 *11 (P=0.027), DRB1 *0402 (P=0.028), and DRB1 *0403 (P=0.048) alleles were found to be higher and accepted as protective alleles. Alleles frequencies in RA patients and control groups correspond to the Hardy-Weinberg rule.Key Words: Rheumatoid arthritis, HLA-DRB1, Allele distrubution, PCR-SSP 61

Published
2009

41. İnflamatuar bağırsak hastalarında CARD15/NOD2 geni 3020 insC mutasyonu ve sitokin gen polimorfizimlerinin incelenmesi

Author

Gök, İlhami, Uçar, Fahri, and Biyoloji Anabilim Dalı

Subjects
Biology, Biyoloji
Abstract

İnflamatuar bağırsak hastalıkları, [(İBH: MIM:601458), (Crohn Hastalığı, CH: MİM: 266600) ve Ülseratif Kolit (UK: MİM: 191390)] genetik ve çevresel ajanların etkileşimiyle ortaya çıkan kompleks, genetik heterojenite gösteren hastalıklardır. Hastalıkla ilişkili olduğu tartışılan CARD15/NOD2 geni mutasyonları ve sitokin gen polimorfizmleri dünyadaki çeşitli ırklarda farklı dağılımlar göstermektedir. Türk toplumundaki inflamatuar bağırsak hastalarının CARD15/NOD2 geni 3020insC mutasyonu ve sitokin gen polimorfızmi dağılımlarını belirlemek amacıyla; 69 inflamatuar bağırsak hastasında [18 Crohn hastası (10 E, 8 K, yaşları 37 ± 11), 51 Ülseratif kolit (24 E, 27 K, yaşları 39 ± 12) ve kontrol grubu olarak 50 sağlıklı bireyde (23 E, 27 K, yaşlan 36 ± 11) mutasyonların analizleri yapıldı. CARDI 5/NOD2 geni 3020insC mutasyonu analizi allel spesifik multipleks PCR yöntemiyle, sitokin gen polimorfizmlerinin analizi ise PCR-SSP (sekans spesifik primer) metodu ile tayin edildi. Türk toplumunda CARDI 5/NOD2 geni 3020 nsC mutasyon oranlan inflamatuar bağırsak hastalannda % 28.9 (CH. %38 ve ÜK.%25) ve sağlıklı bireylerde % 4 olarak tespit edildi. Sitokin gen polimorfizmlerinin dağılımları, sağlıklı bireyler ile karşılaştırıldığında; inflamatuar bağırsak hastalannda sitokin genlerinden, IL-1 RA, İL- 4RA, TGFp ve TNFa kontrol grubuna göre artma (p < 0.05), İL -la, IL-ip, İL- 12, IFN y, İL -2, IL- 4, İL- 6 ve İL -10'da azalma (p< 0.05), Crohn hastalarında; IL-1, IL-4RA, ve TNFo'da artma (p < 0.05), IL-1, IL-4RA, IFN-y, TGFp, TNF, IL-2, IL-4, IL-6 ve IL-10'da azalma (p< 0.05), ülseratif kolitlilerde ise; İL p, İL- 1 RA, İL- 4RA, IL-12, TGFp ve TNFa artma (p < 0.05), IL-lo, IFN y, IL-2, IL-4, IL-6 ve IL-10'da azalma tespit edildi (p< 0.05). Diğerlerinde herhangi bir değişim gözlenmedi. Sonuç olarak; Türk toplumunda CARD15/NOD2 geni 3020 insC mutasyonunun sadece Crohn hastalarına özgü olmayıp, ülseratif kolitli hastalarda da bulunduğunu, klinik tanılarda tek başına belirleyici olamayacağını, fakat sitokin gen polimorfizmlerinde artma ve azalma yönündeki değişimlerinin klinik tanıda kullanılabileceğini düşünmekteyiz.Anahtar kelimeler: İBH, Crohn hastalığı, Ülseratif kolit, CARD15/NOD2 Geni, Sitokin Gen Polimorfızmi, PCR-SSP, Allel Spesifik Multipleks PCR Investigation of 3020 insC Mutation in the CARD15/NOD2 Gene and Cytokine Gene Polimorphisms with Patients of Inflammatory Bowel Diseases Inflammatory bowel diseases (IBD: MIM:601458), including Crohn Disease, (CD: MIM: 266600) and Ulcerative colitis (UC: MIM: 191390), appear as a result of the interaction between genetic and environmental factors; thus showing complex and genetic heterogeneous characteristics. With a purpose to identify the frequency of cytokine gene polymorphisms and also the mutation of 3020 insC of CARD 15 /NOD2 gene, an analysis was carried out to find out the mutation rates of the Turkish population: 69 cases with inflammatory bowel diseases [(18 cases with Crohn disease; (10 M, 8 F, ages 37±1 1 ); 51 Ulcerative colitis (24 M, 27 F, ages 37±12)]; and 50 healthy individuals (23 M, 27 F, ages 36 ±1 1) as the control group.In this study we used PCR based tecniques. In the Turkish population with inflammatory bowel diseases, the mutation rate of 3020 insC of CARD15 /NOD2 gene was IBD 28.9 %, CD 38 %, and UC 25% and the related rate was 4 % concerning the healthy individuals. When compared with the cytokine genes of healthy individuals, the frequency of cytokine gene polymorphism in inflammatory bowel diseases increased in genes IL-1 RA, İL- 4RA, TGFp and TNFa (p < 0.05) but decreased in genes IL -la, IL-lp, IL~ 12, IFN y, IL -2, IL- 4, IL- 6 and IL -10 (p< 0.05); in Crohn diseases it increased in genes IL-1, IL-4RA, and TNFa of (p < 0.05) but decreased in genes IL-1, IL-4RA, IFN-y, TGFp, TNF, IL-2, IL-4, IL-6 and IL-10; in Ulcerative colitis it increased in genes IL p, IL- 1 RA, IL- 4RA, IL-12, TGFp and TNFa (p< 0.05) but decreased in genes IL-la, IFN y, IL-2, IL-4, IL-6 and IL-10 (p< 0J5); there was no difference in other genes.In sum, in the Turkish population the mutation of 3020 insC of CARD15/NOD2 gene is not unique to Crohn disease, but this mutation is present in Ulcerative colitis as well. We are of the opinion that this mutation is not itself the only determining factor for clinical diagnoses; however, it can be used in the clinical diagnosis of IBD in order to determine the low level or high level variations in cytokine gene polymorphism.Key Words: Inflammatory Bowel Disease, Crohn Disease, Ulcerative Colitis, CARD15/NOD2 Gene, Cytokine Gene Polymorphism, PCR-SSP, Specific Multiplex PCR 96

Published
2004

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