Factor V Leiden and Prothrombin Mutations in South of Iran

ABSTRACT: Introduction & Objective: Factor V Leiden and prothrombin mutation are not common but they are involved in pediatric thrombosis. The aim of this study was to evaluate the frequency of factor V Leiden & prohtrombin mutation in healthy population of Shiraz, south of Iran. Materials & Methods: In this cross-sectional study 195 healthy people (97 female and 98 male) were randomly selected. Peripheral white blood cells obtained from 5 ml blood contained 1-2 mg/ml K2- EDTA. Genomic DNA extraction was performed following the protocol described by Miller et al. PCR amplification was carried out in 25μl reaction volume containing 0.5 units Taq polymerase, 200μM dNTP, 500 μM of each of the previously described primers. After initial denaturation, 35 cycles at 95◦c for 30s, and 72◦c for 20s and followed extention by 72 for 10 min were performed. About 10μl of PDR product was digested with MNI I or Mbo restriction enzymes. Results: In this study we determined factor V Leiden in 8 (4.1%) and prothrombin mutation in 6 individual (3.07%) of 198 cases in heterozygous form. No homozygous was seen for any of the mutations. Only one case presented a double heterozygous for factor V and prothrombin in this cohort. Conclusion: Several studies of factor V leiden and prothrombin mutations in the East of Asia showed the higher frequency of these mutations in Iran