Background: Preeclampsia is a multisystem disorder involving vasoconstriction and
hypertension in the mother and decreased blood flow. There are inconsistent reports
on whether there is an association between preeclampsia and thrombophilia. The
Aim of the Study: The present study aimed to determine the relationship of mutations
of factor V Leiden, prothrombin and methylene tetrahydrofolate reductase (MTHFR)
genes in Egyptian preeclamptic patients. Materials and Methods: Fifty six
preeclamptic women and 48 normal pregnant women were tested for detection of
mutations of factor V Leiden (FVL), prothrombin and methylene tetrahydrofolate
reductase genes by genotyping using multiplex allele specific PCR, restriction
enzymes and agarose gel electrophoresis. Results: There was significant association
between mutations of factor V Leiden gene in preeclamptic patients (8 positive cases
out of 56) compared with control cases (No positive cases out of 48), prothrombin
gene in preeclamptic patients (22 positive cases out of 56) compared with control
cases (only one positive case out of 48), while, no significant association between
mutations of methylene tetrahydrofolate reductase gene C677T or A1298C in
preeclamptic patients when compared with control cases. Conclusion: This study
suggests the existence of a linkage between FVL, prothrombin genes polymorphism
but not MTHF reductase genes polymorphism in the pathogenesis of preeclampsia.