Introduction: Thrombophilia is a type of coagulation disorder that increases the risk of thrombosis. Thrombosis in the placenta's capillaries, which can obstruct the flow of nutrients between the mother and the fetus, may lead to abortion. The 4G/5G polymorphism in the plasminogen activator inhibitor type 1 (PAI-1) gene promoter is one of the key determinants in the onset of thrombophilia in women who experience recurrent miscarriages. The purpose of this study was to determine the mutation 4G/5G in the PAI-1 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 PAI-1 (4G/5G) polymorphism, 102 people (69%) were homozygous wild (AA), 36 people (24%) were heterozygous (AC) and 10 people (7%) were homozygous mutant (CC).
Conclusion: According to the obtained results, the PAI-1 4G/5G polymorphism can be used as a genetic marker in the diagnosis of thrombophilia.