Mutational analysis of the inhibin alpha gene in preeclamptic women

Abstract

Background: Preeclampsia (PE) is a disorder that occurs in at least 5% of pregnancies and affects both the mother and the unborn baby. A dramatic increase of maternal serum inhibin A concentration in the second and third trimester of pregnancy is a common feature of PE and inhibin A measurement may add significant prognostic information for predicting PE in pregnant women. Design: We evaluated the presence and prevalence of gene polymorphisms for inhibin a subunit (INHα) in patients affected by PE (no.=50; study group), and in the general population (control group composed of 103 women and 42 men). Methods: DNA extraction, single strand conformation polymorphism analysis, DNA sequencing, restriction fragment length polymorphism analysis, and Fisher’s exact test were used. Results: A 769G→A transition was found in INHα1, but not in INHα2 or INHα3 fragment. This variant was found in 10/145 normal controls (7,6%), and in 1/50 preeclamptic patients (2%), without significant difference between the two groups (p=0.29). Conclusions: The prevalence of INHα gene variants is not increased in PE. Due to its frequency, the 769G→A transition may be considered a polymorphism present in the general Italian population.