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Noncoding RNA and DNA as Biomarkers: Toward an Epigenetic Fetal Barcode for Use in Maternal Plasma

Department of Clinical Chemistry, VU University Medical Center, Amsterdam, the Netherlands

Address correspondence to the author at: Department of Clinical Chemistry, VU University Medical Center, De Boelelaan 1117, 1081HV Amsterdam, the Netherlands, Fax 31-20-444 3985, E-mail cbm.oudejans@vumc.nl

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The human genome contains a large layer of hidden biological information that is not accessible by proteomic or metabolic methods (1)(2). This information does not involve the typical (end)products of gene expression such as proteins. Instead, it involves genes that are transcribed but not translated (noncoding RNA), and DNA sequences that are neither transcribed nor translated (noncoding DNA) (1)(2). When this information, despite being noncoding in nature, is unique for the fetus or at least different from that in maternal blood cells (1), it can be used as a biomarker during pregnancy for the purpose of noninvasive prenatal diagnostics such as detection of Down syndrome. This application, along with a systematic approach to target this category of mostly unexplored information, is elegantly shown by Chim and coworkers in the current issue of Clinical Chemistry (2).

Why is the reporting of these findings so timely? According to the Fantom cDNA3 database (2005 release), the percentage of biological information presented by noncoding RNA is at least one-third of the more than 100 000 transcripts expressed in humans (3). Noncoding RNAs include the rapidly expanding family of small (21–35 nucleotides in length), noncoding microRNAs (miRNA) (4)(5), including small interfering RNA (siRNA), repeat-associated RNA (rasiRNA) (6), . . . [Full Text of this Article]