Aim: Factor V Leiden is one of the common known risk factors of thrombofhilic disease. Factor V Leiden mutation is determinated in Europe at a prevelance of 7-10%. It is suggested that the risk of venous thrombosis, peripheral vascular disease, stroke, unexplained fetal losses, pulmonary embolism and miyocardial infarctus at populations carry this mutation. After this mutation, Factor V A4070G polymorphism has been found and referred as R2 haplotype. This polymorphism has been claimed to decrease factor V levels in plasma and also alter the balance of two functionally different isoforms of Factor V and leads to thrombosis. The prevalance of FV Leiden and RH2 alleles shows significant differences between the geographic regions. Therefore, the regional prevalance is important in determining related diseases. In this regard, we investigated the allelic frequencies of Leiden and R2 polymorphisms of the Factor V gene in 214 randomly selected individuals around Sivas.
Materials and Methods: The study group was selected between individuals residing in Sivas. Total 214 subjects (103 men and 111 woman) were enrolled in the study. The subjects were informed of the purpose of the study and signed a written consent. The factor V gene polymorphisms were determined DNA isolation was performed from peripheral blood samples. The mutation analysis was performed by StripAssay technique which is based on the reverse-hybridization principle automatically. Data were analyzed by SPSS 15.0 package program.
Conclusions: Compared to all other populations reported so far, in our studys, Sivas population harbors generally the similar prevalance of the FV leiden and HR2 polymorphism. This is an finding to be followed in terms of clinical aspect.
Key Words: Leiden, Polimorphism, Mutation
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