Epsilon globin gene expression in developing human fetal tissues

J Neonatal Perinatal Med. 2016;9(1):91-7. doi: 10.3233/NPM-16915052.

Abstract

Objective: The discovery of free fetal DNA in plasma of pregnant women has opened a new avenue for non-invasive prenatal diagnosis. We hypothesized that epsilon (ɛ)-globin gene expression could serve as a positive control for the presence of fetal nucleic acid.

Study design: We measured ɛ-globin mRNA in human fetal tissues and compared concentrations with that measured in adult non-pregnant and pregnant samples. Total RNA was isolated from fetal marrow, liver, blood, and placenta (10-24 weeks gestation), from adult peripheral blood mononuclear cells, and from maternal plasma. RNA was reverse transcribed and quantitative polymerase chain reaction performed for ɛ-globin expression.

Results: ɛ-globin gene expression was detected in all fetal samples, was detected in plasma of pregnant women, but was negligible in non-pregnant samples. Relative ɛ-globin gene expression was significantly greater in fetal blood compared to fetal liver, and was minimally expressed in placenta. ɛ-globin gene expression decreased at the highest gestational ages in fetal blood, while expression was greatest at 15-19 weeks in fetal marrow.

Conclusion: Fetal ɛ-globin gene expression is significantly greater than adult expression and is increased in maternal plasma compared to non-pregnant samples. ɛ-globin gene expression might serve as a positive control when determining the presence of fetal nucleic acid in total nucleic acid isolated from maternal plasma.

Keywords: Epsilon globin; fetal tissues; noninvasive; nucleic acid; prenatal diagnosis.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers / analysis
  • Biomarkers / blood
  • Female
  • Fetus / embryology
  • Fetus / metabolism*
  • Gene Expression Profiling*
  • Gestational Age
  • Humans
  • Liver / metabolism
  • Organ Specificity
  • Placenta / metabolism
  • Pregnancy
  • Prenatal Diagnosis
  • RNA, Messenger / analysis*
  • RNA, Messenger / blood*
  • Reference Standards
  • epsilon-Globins / genetics*

Substances

  • Biomarkers
  • RNA, Messenger
  • epsilon-Globins