FVII promotor bölge gen değişimlerinin Behçet hastalarında tromboz oluşumundaki rolünün araştırılma

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Date

2009

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Biyoteknoloji Enstitüsü

Abstract

Behçet disease is a multisystem disorder which causes damage at different organs. Vascular involvement is the major complication of Behçet disease. Venous and arterial thrombosis is the most common type of the vascular involvement.Coagulation system defects are the major reasons of thrombosis. There are two common pathyways which play a role in this system (intrinsic and extrinsic). When the vassel wall is damaged, Tissue Factor synthesized by the endothel and then activated FVII. Thus coagulation system is started with extrinsic pathway activation. As a result protrombin turns into trombin and cause that all other coagulation stage improvement.Coagulation factor VII plays a role in the coagulation cascade which is synthesized at the liver and secreted into blood as an inactive single chain glycoprotein. FVII gene is located on chromose 13q.34. FVII gene polymorphisms at promotor region influence thrombosis involvement. The ?401G/T and -323ins10bp polymorphisms are associated with a reduced basal rate of FVII transcription; the ?402G/A polymorphism confers increased transcriptional activity of FVII.In this study we investigated -323ins10bp, -401G/T, -402G/A polymorphisms on FVII promotor region which may effect thrombosis risk in Behçet?s disease, 77 Behçet disease patients and 101 control healthy individuals were included in this study. The Fenole-chloroform method was used for DNA isolation, suitable primers were used to amplificate the region, then a different band profile samples with the single strand conformation polymorhisms technique were created. We performed a DNA sequencing for each band profile.We found six different band profiles in our research. One band profile which is heterozygote for three polymorphisms was shown in this study firstly. Also, it was detected with statistical analysis that this profile has a 11.5 fold risk for development of thrombosis in Behcet

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Keywords

Behçet Hastalığı, Tromboz, Koagülasyon mekanizması

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