Medicina Molecular e Genética

Allelic Frequencies of Mutations in Blood Coagulation Factor Genes(Factor V, Factor II) and Methylenetetrahydrofolate Reductase (MTHFR) in 201 Turkish Patients with Venous Thrombosis Complications

Abstract

Nesrin Öztürk Erçelen, Berrin Öztürk, Havva Cömert, Mustafa Diken, Meral Gültomruk, Havva CoÅŸkun and Ayberk Akat

Background and objectives: The objective of this study is to determine the prevalence of factor V Leiden (G1691A), prothrombin (G20210A) and MTHFR (C677T) gene mutations in 201 Turkish patients who were referred to our clinic with venous thrombosis complications such as deep venous thrombosis, ischemic complications, thromboembolism and coronary artery disease. Methods: After isolation of genomic DNA from peripheral blood samples, polymerase chain reaction (PCR) and restriction fragment length polymorphism techniques were used for analysis. Results: Among patients with venous thrombosis complications, allelic frequencies were 0.33, 0.17 and 0.04 for MTHFR (C677T), factor V Leiden (G1691A) and prothrombin (G20210A) mutations respectively. Conclusion: Homozygosity for the MTHFR C677T mutation and/or presence of at least one copy of the A allele of the Factor V Leiden G1691A mutation was found to be associated with increased incidence of venous thrombosis complications in patients (p<0.01). The combined impact of these mutations on venous thrombosis should also be taken into consideration. In our study, prothrombin (G20210A) mutation was found not to be associated with venous thrombosis complications. We also found that the prevalence of factor V Leiden (G1691A), prothrombin (G20210A) and MTHFR (C677T) gene mutations in Turkish patients with venous thrombosis are comparable to results of other studies performed in Turkish and Caucasian populations. We did not observe any significant gender dependency for the factor V Leiden (G1691A), prothrombin (G20210A) and MTHFR (C677T) gene mutations in venous thrombosis complications.