Biochemia Medica, Vol. 22 No. 1, 2012.
Review article
Free DNA – new potential analyte in clinical laboratory diagnostics?
Jasenka Wagner
orcid.org/0000-0002-1126-7523
; Cytogenetics laboratory, Department of Medical Biology, Faculty of Medicine, University J. J. Strossmayer, Osijek, Croatia
Abstract
The existence of cell free DNA in the human circulatory system has been known since the 1950s, however, intensive research in this area has been conducted for the last ten years. This review paper brings a short overview of the existing literature concerning the cell free DNA research in various cli-nical fields and pathological states and considers the application possibilities of this new analyte in clinical laboratory diagnostics.
At the moment, cell free DNA is most widely used for the purpose of non-invasive prenatal diagnosis of fetal sex or fetal RhD status. The recent discovery of epigenetic changes in placental/fetal DNA and the detection of fetal/placental-specific RNAs have made it possible to use this technology in all preg-nancies irrespective of the gender of the fetus. With the application of new techniques such as next generation sequencing, digital PCR and mass spectrometry, it is now possible to detect very small amounts of specific DNA in the presence of excess of other nonspecific nucleic acids. Second most probable application is in oncology, where detection and monitoring of tumors is now possible by the detection of tumor-derived nucleic acids. Third promising field for near future implementation of this analyte is transplantation medicine, where free DNA level could serve as a marker of transplant rejec-tion.
Before any further utilization of this new biomarker, pre-analytical and analytical aspects of free DNA analysis remain to be standardized. In the field of noninvasive prenatal diagnosis, important ethical, legal and social questions remain to be discussed.
Keywords
cell free DNA; cell free fetal DNA; plasma DNA; free DNA; non-invasive prenatal diagno-sis; clinical laboratory diagnosis; sex determination analysis
Hrčak ID:
77386
URI
Publication date:
15.2.2012.
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