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Detection of SNPs in the Plasma of Pregnant Women and in the Urine of Kidney Transplant Recipients by Mass Spectrometry
Author(s) -
LI YING,
HAHN DEIRDRÉ,
WENZEL FRIEDEL,
HOLZGREVE WOLFGANG,
HAHN SINUHE
Publication year - 2006
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1196/annals.1368.019
Subject(s) - single nucleotide polymorphism , urine , cell free fetal dna , fetus , biology , snp , kidney transplantation , fractionation , urinary system , dna , allele , kidney , genetics , genotype , prenatal diagnosis , gene , pregnancy , chemistry , endocrinology , chromatography
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.