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文献_Genotyping fetal paternally inherited SNPs by MALDI-TOF MS using cell-free fetal DNA in maternal plasma influence of size fractionation.pdf

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Electrophoresis 2006, 27, 3889–3896 3889 Ying Li1 Research Article Friedel Wenzel2 Wolfgang Holzgreve1 Sinuhe Hahn1 Genotyping fetal paternally inherited SNPs by 1University Women’s Hospital, MALDI-TOF MS using cell-free fetal DNA in Department of Research, maternal plasma: Influence of size Basel, Switzerland 2Medical Genetics, fractionation Department of Research, Basel, Switzerland The determination of fetal point mutations from fetal cell-free DNA (cf-DNA) in maternal Received February 16, 2006 plasma is technically challenging due to the preponderance of maternal sequences. It Revised May 16, 2006 has recently been shown that fetal cf-DNA sequences are smaller than maternal ones Accepted June 23, 2006 and that the selection of small cf-DNA fragments by size fractionation by agarose gel electrophoresis leads to the enrichment of fetal cf-DNA sequences, thereby permitting the detection of otherwise masked fetal point mutations. In a separate development, the use of MALDI-TOF MS has also been shown to facilitate the detection of fetal point mutations from cf-DNA in maternal plasma. In this study, a combination of these approaches was examined. cf-DNA was extracted from 18 maternal plasma samples, 10 taken at term and 8 obtained early in the second trimester. A total of 41 SNP loci were examined in size-fractionated and total cf-DNA using either a conventional ho-
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