Gene analysis of the N-terminal region of the estrogen receptor aplha in preeclampsia

Alterations in the NH2-terminal region of the estrogen receptor alpha (ER a lpha) gene expressed in placental bed tissue may be implicated in the devel opment of preeclampsia, the pathogenesis of which involves the spiral arter ies. Therefore, mutations and polymorphisms on exons 1 and 2 of the gene en coding ER alpha were studied. Placental bed biopsies were taken from 20 hea lthy, normotensive pregnant women and 16 preeclamptic patients. DNA was ext racted from the tissue and exon 1 and exon 2 were amplified by PCR prior to denaturing gradient gel electrophoresis analysis or to single stranded con formational polymorphism analysis. In exon 1, a codon 10 polymorphism, eith er homozygous for the wild type gene, homozygous for the mutant type gene, or heterozygous, was revealed in both patients and healthy individuals. A c odon 87 polymorphism, homozygous for the wild type gene, was detected in bo th groups. No mutations or polymorphisms were found in exon 2. The allele d istribution for either codon 10 or 87 between patients and healthy individu als showed no significant differences. In conclusion, genetic alterations i n the NH2-terminal region of the ER alpha molecule are not correlated with preeclampsia. (C) 2001 Elsevier Science Inc. All rights reserved.