Introduction: Thrombophilia is a defect in blood coagulation that raises the risk of myeloproliferation and thrombosis. Thrombophilia can be arises from hereditary and acquired defects in the coagulation system. Acquired disorders include heparin-induced thrombocytopenia, antiphospholipid antibody syndrome, neoplasia, use of oral contraceptives (OCP), pregnancy and childbirth, old age, hyperlipidemia, congestive heart failure. Hereditary causes of thrombophilia is mutations in the genes that control blood coagulation. One of the most important mutations is V617F in Janus kinase 2 gene. The purpose of this study was to determine the mutation V617F in the Janus kinase 2 (Jak2) gene using molecular methods in the field of thrombophilia diagnosis.
Methods: Blood sample were collected from 148 people suspected of thrombophilia who referred to medical centers in different cities of Iran. DNA was extracted from the blood samples using DNA extraction kit. The quality and quantity of extracted DNA was determined using electrophoresis on agarose gel and nanodrop device. Finally, by using specific primers and with the help of Allele-specific PCR method, the desired mutation was investigated.
Results: The results of electrophoresis on agarose gel and nanodrop device showed that the extracted DNA has good quality and quantity. In terms of JAK2 V617F polymorphism, 14 people were JAK2 V617F mutation ( 9.5%) and 134 people were wild-type.
Conclusion: According to the obtained results, the JAK2 V617F polymorphism can be used as a genetic marker in the diagnosis of thrombophilia.