• Investigation of the relationship between polymorphism in the methylene tetrahydrofolate reductase gene (C677T) and thrombophilia using molecular techniques
  • Zahra Zamani Foroushani,1 Fatemeh Dehghan,2 Morteza Abkar,3 Hamed Fakhim,4,*
    1. Shahid Ashrafi Esfahani University
    2. Shahid Ashrafi Esfahani University
    3. Shahid Ashrafi Esfahani University
    4. Isfahan University of Medical Sciences


  • Introduction: Thrombophilia, which is one of the most common causes of death in societies, is caused by defects in the coagulation system and is characterized by the predisposition to the development of thrombosis in veins, arteries or both. The clinical symptoms of this disease include superficial or deep vein thrombosis, heart attack, pulmonary embolism, frequent miscarriage, and pregnancy complications. Among the hereditary factors of thrombophilia, mutation in methylene tetrahydrofolate reductase (MTHFR) is of great importance. The purpose of this study is to determine the mutation in the methylene tetrahydrofolate reductase gene (C677T) using molecular methods in the field of thrombophilia diagnosis
  • Methods: At first, sampling was done from 109 people suspected of thrombophilia who referred to medical centers in different cities of Iran. Then DNA was extracted from the samples. 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 and tetra-primer ARMS PCR methods, 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 MTHFR C677T polymorphism, 70 people were homozygous wild type (CC), 29 people were heterozygous (CT) and 10 people were homozygous mutant (TT).
  • Conclusion: According to the obtained results, the MTHFR C677T polymorphism can be used as a genetic marker in the diagnosis of thrombophilia.
  • Keywords: thrombophilia, methylenetetrahydrofolate reductase C677T, allele-specific PCR, tetra- ARMS PCR.