1. Clinical significance of coagulation factor gene mutations.
- Author
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Muhić, Adis, Subašić, Emina, Zečević, Lamija, Božić-Majstorović, Ljubinka, Mekić, Mevludin, and Subašić, Đemo
- Subjects
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BLOOD coagulation , *GENETIC mutation , *POLYMERASE chain reaction , *HYPERCOAGULATION disorders , *MEDICAL care - Abstract
Introduction: the normal process of blood coagulation takes place under the control of protein coagulation molecules or coagulation factors, which are encoded by the corresponding protein-coding genes. The abnormal coagulation course, often cause of thromboembolic pathological conditions. Detection of pathological mutations of these genes has high importance in clinical medicine. Aim: The prevalence determination of specific coagulation gene mutations, important for timely anticoagulation therapy in personalized clinical medicine. Materials and methods: specimens of peripheral blood, taken from clinically selected patients, were analyzed to presence of specific gene mutations, by PCR and DNA sequencing methods. Results: after analysis of a total 121 specimens, determined total percentage mutation values were: 71%PAI-1(4G/5G); 23,6% MTHFR (C677T); 19% MTHFR (A1298C); 12,7% F13(G100T); 9,9% F5(G1691A); 1,6% F2(G20210A). Conclusion: the determination of these mutations is very important predictive molecular anticoagulant biomarkers for pregnant women and patients with autoimmune disorders. [ABSTRACT FROM AUTHOR]
- Published
- 2024