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Deep vein thrombosis and role of selected mutations for the coagulation factors genes
Čtveráčková, Zuzana ; Šimůnek, Tomáš (advisor) ; Dršata, Jaroslav (referee)
Charles University in Prague Faculty of Pharmacy in Hradec Králové Department of Biochemical Sciences Candidate: Bc. Zuzana Čtveráčková Supervisor: Doc. PharmDr. Tomáš Šimůnek, Ph.D. Title of diploma thesis: Deep vein thrombosis and role of selected mutations for the coagulation factors genes. This thesis is focused on mutations for the coagulation factors genes that can lead to deep vein thrombosis. In the first part, we describe the role of hereditary thrombophilia in the development of disease. Following is the description of each thrombophilic mutations and their meaning which is not always clear. The following mutations were detected: Factor V Leiden (G1691A), factor V R2 (H1299R), factor II prothrombin (G20210A), MTHFR (C677T, A1298C), factor XIII (V34L), PAI-1 (4G/5G) a EPCR (A4600G - haplotype A3, G4678C - haplotype A1). Most of them have been previously identified as risk factors for deep vein thrombosis, but specifically the factor XIII V34L polymorphism is considered to a protective factor. Other mutations with protective effect could be one of the genotypes of the PAI-1 and EPCR A1 haplotype. In the practical part, the samples and the results of 783 subjects were used. First part of them which was diagnosed by reverse hybridization commercial detection kit CVD Stripassay T (ViennaLab)...
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