The Association between Polymorphism-119G>A of the Alpha-Fetoprotein Gene and Increased Serum Alpha- Fetoprotein Level: A Case Control Study

Abstract

Background: Alpha-fetoprotein is produced during pregnancy by the yolk sac, and then by the fetal liver. This hormone is secreted from early pregnancy, but its level of measurement is important from 15 to 21 weeks of gestation. The secretion of this hormone is very important because an increase in this hormone is associated with neural tube defects (NTDs) in the fetus. In this study, we analyzed the association between polymorphism-119G>A in the alpha-fetoprotein (AFp ) gene with increased AFP levels in mothers with no neural tube defects in their fetus.
Methods: Participants were 50 pregnant women who had high alpha-fetoprotein but no neural tube defects in their fetus (the case group) and 50 pregnant women that their alpha fetoprotein was normal with no neural tube defects in their fetus (control group). After DNA extraction, the fragment including the desired polymorphism was amplified using the PCR technique, and then sequenced.
Results: The results of this study showed that there was no significant relationship between this polymorphism and the increase in alpha fetoprotein in the study population.                                               
Conclusion: Future studies are needed to investigate other polymorphisms with higher specimens, and the relationship between this polymorphism, and the survival rate of pregnant mothers in the Iranian population.