P-45: Pulmonary Thromboembolism and Its Relation to FV Leiden Mutation


Firoozi A *, Sakhinia E , Karimi Ansari N ,

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Objective: Venous thromboembolism (VTE), represented by deep venous thromboembolism and pulmonary thromboembolism, is a major health problem throughout the world. VTE is a multifactorial disorder that both acquired and inherited conditions may be responsible for the development of it. Previous studies have been reported that factor V G1691A mutation is the most common heritable cause of venous thrombosis. The FV G1691A is a missense mutation causes amino acid substitution of glutamine for arginine at the cleavage site (codon 506), that reduces its sensitivity to inactivation by activated protein C. Inherited pattern of FV G1691A is autosomal dominant and then people who are carrying one allele have an increased susceptibility to VTE. Materials and Methods: We aimed to compare the frequency of this mutation in 53 patients who are suffering from pulmonary thromboembolism and 32 healthy controls in North West of Iran. PCR-RFLP method was used to screen FV G1691A mutation. Genomic DNA was extracted and amplified with specific primers, and then PCR products were digested using Mnl I restriction enzyme and the fragments were analyzed on 8% polyacrylamide. Results: Results were shown that the 1691 G/A genotype were detected in 14 (26.9 %) of patients and in 2 (6.3 %) of controls, whereas 1691 A/A genotype were not founded in any samples. Conclusion: As conclusion, our data have indicated that the prevalence of mutant alleles is significantly more frequent in patients with PTE compared to controls. We proposed that this mutation strongly candidate risk factor among PTE patients in North weste of Iran