Abstract
With the advent of real-time polymerase chain reaction (PCR), it is now possible to measure nucleic acid concentrations with an accuracy that was not possible only a few years ago. Examples are the analysis of gene expression or gene duplications/losses, where twofold differences in nucleic acid concentration have routinely been determined with almost 100% accuracy. As our primary interest is in prenatal diagnosis, we have investigated whether real-time PCR could be used for the diagnosis of chromosomal anomalies, in particular the aneuploidies such as trisomy 21, where the difference in copy number is only 50%. The feasibility of such an approach was first tested in a pilot study, in which we were able to demonstrate that trisomy 21 samples could be detected with 100% specificity. We have recently modified this test in order to permit the simultaneous analysis of trisomies 18 and 21, and have in a large scale analysis demonstrated that our approach can be used for the highly reproducible and robust detection of only 1.5-fold differences in gene copy number.
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Zimmermann, B., Levett, L., Holzgreve, W., Hahn, S. (2006). Use of Real-Time Polymerase Chain Reaction for the Detection of Fetal Aneuploidies. In: Lo, Y.M.D., Chiu, R.W.K., Chan, K.C.A. (eds) Clinical Applications of PCR. Methods in Molecular Biology™, vol 336. Humana Press. https://doi.org/10.1385/1-59745-074-X:83
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DOI: https://doi.org/10.1385/1-59745-074-X:83
Publisher Name: Humana Press
Print ISBN: 978-1-58829-348-0
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