title: Detection of SNPs in the plasma of pregnant women and in the urine of kidney transplant recipients by mass spectrometry.
abstract: 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.
authors.affiliation: Laboratory for Prenatal Medicine, University Women's Hospital, Department of Research, Spitalstrasse 21, CH 4031 Basel, Switzerland.
authors.forename: Ying
authors.initials: Y
authors.lastname: Li
authors.forename: Deirdré
authors.initials: D
authors.lastname: Hahn
authors.forename: Friedel
authors.initials: F
authors.lastname: Wenzel
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Holzgreve
authors.forename: Sinuhe
authors.initials: S
authors.lastname: Hahn
mesh_terms: D004247:DNA / Q000097:blood / Q000737:chemistry / Q000652:urine; D005220:Fathers; D005260:Female; D006801:Humans; D016030:Kidney Transplantation; D008297:Male; D013058:Mass Spectrometry; D008431:Maternal-Fetal Exchange; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy
chemical_list: D004247:DNA