The frenquency of factor V leiden mutation in patients with DVT in southeastern of Turkey

SUMMARY: Resistance to activated protein C (APC) has recently been identified as the most common inherited risk factor in the development of venous thrombosis. APC resistance in more than 90 % of cases is caused by a single point mutation in the gene for factor V (G to A transition at nucleotide position 1691), which predicts the replacement of arginine (R) 506 in the APC cleavage site with a glutamine (Q). The factor V Leiden mutation (FVL) leads to a seven fold increased risk of venous thromboembolism. From September, 1999, to October, 2000, a total of 381 individuals, including 320 healthy subjects and 61 patients with Deep Vein Thrombosis (DVT), different in age and sex, were consecutively entered into our study to determine the prevalence of FVL in the population of the Southeastern Anatolia Region. APC resistance was also measured in 320 healthy subjects; 34 of them had an APC-R positive (10.6 %). The FVL genotypes were identified by a polymerase chain reaction and restriction analysis. The results were confirmed with a rapid method based on flourescence resonance energy transfer (FRET) and real time polymerase chain reaction. The frequencies of fVL mutation were 24.5 % (15 / 61) in patients with DVT and 9 % (29 / 320) in healthy persons. APC-R without the FVL expression suggest a different type of mutation in the Factor V molecule. In conclusion; we suggest that factor V Leiden mutation is common in the population of the Southeastern Anatolia Region in DVT. 89