Maternal Factor V Leiden Mutation in Preeclampsia: A Case-Control South Eastern Indian Tertiary Care Hospital Based Study

Abstract

Introduction: Pre-Eclampsia (PE) is a pregnancy-specific disorder which further complicates and leads to eclampsia. The Factor V Leiden (FVL) is an autosomal dominant genetic abnormality with incomplete penetrance predisposes to thrombosis. It codes for Factor V, as it is a missense mutation where arginine is replaced by glutamine. The FVL is a heterozygous condition which has risk of complicated pregnancy outcomes. Aim: To find out association between the Factor V Leiden Mutation (FVLM) and PE. Materials and Methods: The study was designed as casecontrol, where 150 PE gravid women were cases and 150 healthy normotensive gravid women were controls enrolled from the Department of Obstetrics and Gynaecology in RL Jalappa Hospital and Research Centre, Tamaka, Kolar, Karnataka, India. The methodology for maternal FVLM adopted was, isolation of the Deoxyribo Nucleic Acid (DNA) by using salting-out method followed by Polymerase Chain Reaction and Restricted Fragment Length Polymorphism (PCR-RFLP) with MNL1 enzyme. On digestion FVL allele was visible as an uncut 268 base pair fragment with PCR while the Leiden was cleaved to produce 163 and 67 base pair fragments (wild type). The 37 base pair fragment was not visible on the gel due to its small size. Homozygous Leiden mutation produces two bands corresponding to 200 base pair and 67 base pair (homozygous Leiden) for heterozygous Leiden Mutation four bands corresponding to 200 base pair, 163 base pair, 67 base pair, 37 base pair (heterozygous/Wild Type/mutant Leiden). Statistical analysis was done by using the SPSS software 13. The difference in frequency between two groups was not statistically significant. Results: Frequency of the leiden variant was 5.3% among cases and 6.7% in the control groups. Leiden variant of factor V in homozygous condition was not found in either of the study groups. Conclusion: FVLM is not a significant marker for PE in the Kolar population.

Keywords

• blood coagulation
• missense
• mutation
• pregnancy