İnme geçirmiş olan çocuklarda, trombomodulin geninin taranması
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Date
2009
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Biyoteknoloji Enstitüsü
Abstract
Stroke is the third most common cause of mortality and of morbidity in the world. In the past decade, the mortality rate from stroke has declined, but the risk factors which may cause morbidity have increased.Thrombomodulin (TM) is a 557 amino acid a glycosylated transmembrane protein and is a thrombin receptor located on endothelial cell surface. It was named as thrombomodulin due to its modulator role on the functions of thrombin. While a part of TM?s physiological functions are through the activity of the TM-trombin complex on protein C and on thrombin activated fibrinolysis inhibitor (TAFI), a substantial number TM functions are independent from thrombin.The pediatric stroke is the most observed type of thrombosis in the pediatric age we aimed to study the thrombomodulin gene which play a balancing role of coagulation and fibrinolysis. We screened 190 samples of pediatric stroke patients. Following DNA extraction, PCR, SSCP and DNA sequencing analysis of Thrombomodulin gene was performed. We have identified a patient with c.519 C>G polymorphism in the thrombomodulin gene.
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İnme, Trombomodulin geni