Investigation of the relationship between polymorphism in the methylene tetrahydrofolate reductase gene (A1298C) and thrombophilia in the Iranian population.
Investigation of the relationship between polymorphism in the methylene tetrahydrofolate reductase gene (A1298C) and thrombophilia in the Iranian population.
Introduction: Thrombophilia is defined as tendency to thrombosis, and the combination of deep vein thrombosis and pulmonary embolism is called venous thromboembolism.Various acquired and genetic factors are known as risk factors for this disease, whose acquired causes include pregnancy, childbirth and surgery. Genetic causes also include mutations in several coagulation factors, one of the most important of which is mutation in the methylene tetrahydrofolate reductase (MTHFR) gene. The purpose of this study is to determine the mutation in the methylene tetrahydrofolate reductase gene (A1298C) 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- 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 A1298C polymorphism, 43 people were homozygous wild (AA), 50 people were heterozygous (AC) and 16 people were homozygous mutant (CC).
Conclusion: According to the obtained results, the MTHFR A1298C polymorphism can be used as a genetic marker in the diagnosis of thrombophilia.