Contributed equally to this paper.
Prenatal fetal sex diagnosis by detecting amelogenin gene in maternal plasma
Article first published online: 20 JUL 2005
Copyright © 2005 John Wiley & Sons, Ltd.
Volume 25, Issue 7, pages 577–581, July 2005
How to Cite
Zhu, B., Sun, Q.-W., Lu, Y.-C., Sun, M.-M., Wang, L.-J. and Huang, X.-H. (2005), Prenatal fetal sex diagnosis by detecting amelogenin gene in maternal plasma. Prenat. Diagn., 25: 577–581. doi: 10.1002/pd.1192
- Issue published online: 20 JUL 2005
- Article first published online: 20 JUL 2005
- Manuscript Accepted: 14 MAR 2005
- Manuscript Revised: 19 FEB 2005
- Manuscript Received: 21 SEP 2004
- Medical Developmental Program of Suzhou University. Grant Number: NO.EE128 002
- noninvasive sex diagnosis;
- fetal DNA;
- maternal plasma;
- amelogenin gene
To provide a new, reliable noninvasive method for fetal sex determination.
Fetal sex was detected in 32 early pregnant women by identifying the amelogenin gene in maternal plasma using nested PCR analysis. First, the 122/128 bp of X-Y homologous region containing 6 bp deletions in the intron 3 of amelogenin gene in X chromosome was amplified, and then the nested PCR was carried out, whose 3′ end of the upstream primer is just located in the deletion region. The fetus was male or female, depending on whether it had the 89-bp nested PCR product or not.
The 89 bp of nested PCR product was detected in 19 plasma samples obtained from pregnant women, deducing they bear the male fetus and the remaining pregnant women bear female. When compared with the birth outcome, two samples were pseudo-positive. The coincidence was 93.8%. This method had high sensitivity that even trace amount of target fetal DNA (10 pg) could be detected.
This conventional nested PCR analysis of amelogenin gene promises to be a reliable method for noninvasive fetal sex determination at early pregnancy using maternal plasma DNA. Copyright © 2005 John Wiley & Sons, Ltd.