BACKGROUND: Down’s syndrome (DS) is a genetic disease with chromosome abnormality due to the increasing chromosome 21. This study focused on the clinical application value of ERG methylation level in blood of pregnant women as a biomarker in Down’s syndrome.

MATERIAL AND METHODS: The sham group consisted of 210 nonpregnant women, the positive control group consisted of 33 women with a delivery history of DS fetus, and the negative control group consisted of 60 women with eutocia history. A combination of restriction enzyme digestion experiment and PCR was performed to examine ERG methylation levels, methylation sites, and distribution in blood of pregnant women and in chorion tissues from abortion samples. Gene sequencing was performed to determine the ERG sequence in chromosome 21. Homology between normal tissues and chorion tissues from abortion samples was analyzed with bioinformatics technology.

RESULTS: ERG methylation in chorion tissues from 210 abortion samples at 8, 9, and 10 weeks gestational age were determined; however, no ERG methylation was determined in blood of pregnant women. Gene sequencing indicated that normal ERG sequence in chromosome 21 was in fetus chorion tissues, and these ERG sequences were aberrantly methylated. Bioinformatics result showed that homology and DNA methylation level was discrepancy in normal tissues and chorion tissues from abortion samples.

CONCLUSIONS: It was worthwhile to use ERG methylation as biomarker in noninvasive prenatal diagnosis, and ERG methylation should be applied with consent of pregnancy and her relatives.

Keywords: Biomarkers - blood, Base Sequence, Chorion - metabolism, DNA Methylation - genetics, DNA, Complementary - genetics, Down Syndrome - genetics, Electrophoresis, Agar Gel, Genome, Human, Gestational Age, Polymerase Chain Reaction, Pregnancy, Prenatal Diagnosis - methods, Restriction Mapping, Sequence Analysis, DNA, Transcriptional Regulator ERG - genetics