Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Internal Medicine

APS is characterized mainly by the presence of thromboembolic events, it seems perfectly plausible that several genetic factors may also be involved in its pathophysiology. Recently protein Z gene polymorphism is proved to be a genetic risk factor in developing thrombosis in various diseases. Up to our knowledge, no published research studied the implication of protein Z G79A polymorphism in thrombosis in APS. We are aiming at studying the prevalence of protein Z G79A gene polymorphism among healthy Egyptian individual and comparing it to its incidence among antiphospholipid syndrome patients, as well as detecting whether this gene polymorphism increases the risk of thrombosis and adverse pregnancy outcomes in Egyptian patients with APS or not. This study is done to detect the presence of a relation between the polymorphism (rs3024735) of protein Z and an increased risk of thrombosis or adverse pregnancy outcomes in patients with antiphospholipid syndrome. 60 patients previously diagnosed with APS according to the clinical and laboratory criteria required for diagnosis and 40 age, sex and ethnic group matched controls were exposed to proper history taking regarding thrombosis and adverse pregnancy outcomes and labs were withdrawn for detection of the G79A protein Z polymorphism. Genotyping of the protein Z rs3024735 genetic polymorphism was performed by polymerase chain reaction restriction fragment length polymorphism PCR- RFLP method

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