alexa 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
ISSN: 1747-0862

Journal of Molecular and Genetic Medicine
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Research Article

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

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

Bahçeşehir University Medical School, Department of Medical Genetics, Çırağan Cad. Osmanpaşa Mektebi Sok. No: 4-6 34353 Beşiktaş, Istanbul, Turkey

Corresponding Author:
Nesrin Öztürk Erçelen, M.D
Bahçeşehir University Medical School
Department of Medical Genetics
Çırağan Cad. Osmanpaşa Mektebi Sok. No: 4-6 34353 Beşiktaş
Istanbul, Turkey
Tel: +902124442864
Fax: +902123810020
E-mail: [email protected]

Received Date: August 16, 2013; Accepted Date: December 10, 2013; Published Date: December 17, 2013

Citation: Erçelen NÖ, Öztürk B, Cömert H, Diken M, Gültomruk M, et al. (2014) 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. J Mol Genet Med 7:93. doi:10.4172/1747-0862.1000093

Copyright: © 2014 Erçelen NÖ, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited

Abstract

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.

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