Distribution of prothrombin G20210A, factor V Leiden, and MTHFR C677T mutations in the middle Black Sea area (Tokat) of Turkey

Aim: To determine the distribution frequencies of prothrombin (factor II) G20210A, factor V Leiden, and methylenetetrahydrofolate reductase (MTHFR) C677T mutations in Tokat Province and the middle Black Sea area of Turkey. Materials and methods: The study group consisted of 243 patients who presented to our center with thrombosis and other complaints. Written permission from patients was obtained. DNA was isolated from the blood samples of these patients. Mutation analyses were conducted using the real-time polymerase chain reaction (RT-PCR) method. The data were subjected to statistical analyses. Results: According to the results of the study, factor V Leiden was detected in 37 patients, prothrombin G20210A was detected in 5 patients, and MTHFR C677T was detected in 146 patients. On the other hand, 79 patients carried none of these mutations. Conclusion: Factor V Leiden mutation was detected at a rate of 15.2%, which is much higher than the average in Turkey. The G20210A mutation rate in the prothrombin gene was determined as 2.1%. The MTHFR C677T mutation incidence was quite high (60%). The homozygous mutation rate was higher in diagnoses involving thrombosis, while the heterozygous mutation rate was higher in other diagnoses.