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a University Women's Hospital/Department of Research, University of Basel, Basel, Switzerland b Division of Paediatric Nephrology, University of the Witwatersrand and Johannesburg Hospital, Johannesburg, South Africa c Medical Genetics, Department of Research, University of Basel, Switzerland
Key Words: SNPs • cell-free DNA • size-fractionation • urinary DNA
Address for correspondence: Dr. Sinuhe Hahn, Laboratory for Prenatal Medicine, University Women's Hospital, Department of Research, Spitalstrasse 21, CH 4031 Basel, Switzerland. Voice: ++41-61-265-9224; fax: ++41-61-265-9399. e-mail: shahn{at}unbs.ch
Recently, it has been discovered that cell-free fetal DNA is smaller than corresponding maternal DNA. Therefore, circulating fetal DNA can be enriched by size-fractionation. Such a selection improves the non-invasive prenatal diagnosis of paternally inherited single gene mutations. Recent studies showed that MALDI-TOF mass spectrometry (MS) can be used to reliably detect fetal-specific single-nucleotide polymorphisms (SNPs) in maternal plasma. In this study, we looked at whether the size-fractionation approach could improve the detection of paternally inherited SNPs by MS assay. Our results indicated that the size-fractionation approach improved the analysis of paternally inherited SNP alleles. Our previous studies showed that donor-derived STR sequences could be detected in the urine of kidney transplant recipients. Here, we also examined whether donor-specific SNPs could be detected in recipient's urine by MS.
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