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    Angiotensin-converting enzyme gene and endothelial nitric oxide synthase gene polymorphisms in Beh double dagger et's disease with or without ocular involvement
    (SPRINGER BASEL AG, 2009) Dursun, Ahmet; Durakbasi-Dursun, Hatice Gul; Dursun, Recep; Baris, Savas; Akduman, Levent
    The association of known ACE gene and eNOS gene polymorphisms with BD in a group of Turkish patients with or without ocular involvement has been investigated. The ACE and eNOS gene polymorphisms were investigated in 73 BD patients and 90 controls. The distrubition of "DD", "ID" and "II" genotypes of the ACE gene were 32 (43.8%), 29 (39.8%) and 12 (16.4%) for BD patients and 32 (35.5%), 35 (38.9%) and 23 (25.6%) for healthy controls. There was no significant difference between the groups (p = 0.140, OR 1.44, CI 0.90-2.30). When Beh double dagger et patients with ocular involvement were compared to the control group, statistical significance was found (p = 0.049, OR 2.18, CI 1.00-4.81). The "bb", "ba", and "aa" genotype frequencies of the eNOS gene were 48 (65.8%), 23 (31.5%), and 2 (2.7%) for patients with BD and 75 (83.3%), 15 (16.7%), and 0 (0%) for healthy controls, respectively. The significant difference found in allelic frequencies between the two groups (p = 0.011, OR 2.32, CI 1.11-4.87). When Beh double dagger et patients with ocular involvement were compared, sharper statistical significance was found (p = 0.001,OR 4.61,CI 1.85-11.52). The ACE gene polymorphism does not play a role in the pathogenesis of BD. The findings of the eNOS gene polymorphisms confirmed the significant association with BD and even more in patients with ocular involvement.
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    Genetic analysis of MEFV gene pyrin domain in patients with Behcet's disease
    (HINDAWI LTD, 2006) Dursun, Ahmet; Durakbasi-Dursun, Hatice Gul; Zamani, Ayse Gul; Gulbahar, Zerrin Gulin; Dursun, Recep; Yakicier, Cengiz
    Objectives. Behcet's disease (BD) is a systemic vasculitis with recurrent oral and genital ulcers and uveitis. MEFV gene, which is the main factor in familial Mediterranean fever (FMF), is also reported to be a susceptibility gene for BD. The pyrin domain of MEFV gene is a member of death-domain superfamily and has been proposed to regulate inflammatory signaling in myeloid cells. This study was designed to determine if mutations in pyrin domain of MEFV gene are involved in BD. Methods. We analyzed the pyrin domain of MEFV gene in 54 Turkish patients with BD by PCR-analysis and direct sequencing. Results. Neither deletion or insertion mutations nor point mutations in pyrin domain were found in any patient. Conclusion. Although pyrin gene mutations have been reported in patients with BD, pyrin domain is not mutated. However, alterations in other regions of MEFV gene and interaction between pyrin domains are needed to be further investigated. Copyright (c) 2006 Ahmet Dursun et al.
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    A new approach to chromosomal abnormalities in sperm from patients with oligoasthenoteratozoospermia: detection of double aneuploidy in addition to single aneuploidy and diploidy by five-color fluorescence in situ hybridization using one probe set
    (ELSEVIER SCIENCE INC, 2008) Durakbasi-Dursun, Hatice Gul; Zamani, Ayse Gul; Kutlu, Ruhusen; Gorkemli, Huseyin; Bahce, Muhterem; Acar, Aynur
    Objective: To determine the frequencies of disomy, nullisomy, total aneuploidy, and diploidy in the sperms of infertile men. Design: A controlled prospective study. Setting: Assisted reproductive technology (ART)/IVF Unit and Department of Medical Biology and Genetics, Meram Medical Faculty, Konya, Turkey. Patient(s): Infertile men with oligoasthenoteratozoospermia (OAT) and normal fertile donors. Intervention(s): After slide preparation from semen samples, sperm nuclei were analyzed for chromosomes 13, 18, 21, X, and Y by five-color fluorescence in situ hybridization. Main Outcome Measure(3): The sperm aneuploidy (disomy and nullisomy) and diploidy rates were determined according to the number of signals detected for each probe in infertile and fertile men. Results: Patients with OAT had a significantly higher incidence of disomy (except chromosome 18 and XX disomy), nullisomy (except chromosome 18), and diploidy than normal fertile controls. In addition to double disomy, double nullisomy and disomy+nullisomy were observed in patients with OAT, but none of these were seen in controls. Conclusion(s): In this study patients with OAT had an increased rate of sperm aneuploidy and diploidy. This finding suggest that patients with OAT may be at an increased risk of producing aneuploid and triploid offsprings. For this reason, it may be very, important to perform the sperm fluorescence in situ hybridization in patients with OAT. Thus, a more informative genetic counseling might be given to couples with male factor infertility who are at an increased risk of having Aneuploid offsprings and triploid conceptions before intracytoplasmic sperm injection (ICSI). (Fertil Steril (R) 2008;89:1709-17. (c) 2008 by American Society for Reproductive Medicine.).