Discovery of epigenetic biomarkers for the noninvasive diagnosis of fetal disease
Identifieur interne : 002817 ( Istex/Corpus ); précédent : 002816; suivant : 002818Discovery of epigenetic biomarkers for the noninvasive diagnosis of fetal disease
Auteurs : Kimberly Bunce ; Tianjiao Chu ; Urvashi Surti ; William Allen Hogge ; David G. PetersSource :
- Prenatal Diagnosis [ 0197-3851 ] ; 2012-06.
English descriptors
- KwdEn :
- Aneuploidy, Biomarkers, Chem, Chiu, Chorionic villus sampling, Chromosome, Clin, Clin chem, Cpgs, Differentially, Differentially methylated, Dmrs, Epigenetic, Epigenetic biomarker discovery, Epityper, Fetal, Fetal alleles, Fetal aneuploidy, Fetal trisomy, Genome, Gestational, Gestational weeks, Hypermethylated, Hypothetical protein, Isoform, John wiley sons, Leung, Locus, Mass spectrometry, Maternal, Maternal leukocytes, Maternal plasma, Methylated, Methylation, Microarray, Microarray analysis, Noninvasive, Noninvasive detection, Noninvasive diagnosis, Placental, Potential biomarkers, Prenatal, Prenatal diagnosis, Primer, Proteinase inhibitor, Selective recovery, Trisomy.
- Teeft :
- Aneuploidy, Biomarkers, Chem, Chiu, Chorionic villus sampling, Chromosome, Clin, Clin chem, Cpgs, Differentially, Differentially methylated, Dmrs, Epigenetic, Epigenetic biomarker discovery, Epityper, Fetal, Fetal alleles, Fetal aneuploidy, Fetal trisomy, Genome, Gestational, Gestational weeks, Hypermethylated, Hypothetical protein, Isoform, John wiley sons, Leung, Locus, Mass spectrometry, Maternal, Maternal leukocytes, Maternal plasma, Methylated, Methylation, Microarray, Microarray analysis, Noninvasive, Noninvasive detection, Noninvasive diagnosis, Placental, Potential biomarkers, Prenatal, Prenatal diagnosis, Primer, Proteinase inhibitor, Selective recovery, Trisomy.
Abstract
The primary goal of this study was to identify CpG sites in the human genome that are differentially methylated in DNA obtained from chorionic villus sampling (CVS) samples and gestational age‐matched maternal blood cell (MBC) samples.
Url:
DOI: 10.1002/pd.3853
Links to Exploration step
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<front><div type="abstract">The primary goal of this study was to identify CpG sites in the human genome that are differentially methylated in DNA obtained from chorionic villus sampling (CVS) samples and gestational age‐matched maternal blood cell (MBC) samples.</div>
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<profileDesc><abstract style="main"><head>ABSTRACT</head>
Objectives
<p>The primary goal of this study was to identify CpG sites in the human genome that are differentially methylated in DNA obtained from chorionic villus sampling (CVS) samples and gestational age‐matched maternal blood cell (MBC) samples.</p>
Methods
<p>We used the HumanMethylation27 DNA Analysis BeadChip to characterize DNA methylation in samples of CVS and MBC. We then selected a subset of differentially methylated CpG sites on chromsome 13 and subjected them to analysis by mass spectrometry using the Epityper platform.</p>
Results
<p>We identified 718 tissue‐specific differentially methylated regions (DMRs) between MBC and CVS; 563 of these were hypermethylated in MBC and hypomethylated in CVS, whereas 155 sites were hypomethylated in MBC and hypermethylated in CVS. Further analysis of 13 DMRs on chromosome 13 by Epityper confirmed the microarray data and provided us with additional data about the methylation patterns of surrounding CpG sites.</p>
Conclusions
<p>Analysis of the resulting data identified a large number of cytosine‐guanine dinucleotides that are potential biomarkers for the selective amplification of fetal DNA from maternal plasma and the subsequent noninvasive detection of trisomy 13. © 2012 John Wiley & Sons, Ltd.</p>
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<p>We identified 718 tissue‐specific differentially methylated regions (DMRs) between MBC and CVS; 563 of these were hypermethylated in MBC and hypomethylated in CVS, whereas 155 sites were hypomethylated in MBC and hypermethylated in CVS. Further analysis of 13 DMRs on chromosome 13 by Epityper confirmed the microarray data and provided us with additional data about the methylation patterns of surrounding CpG sites.</p>
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<p>Analysis of the resulting data identified a large number of cytosine‐guanine dinucleotides that are potential biomarkers for the selective amplification of fetal DNA from maternal plasma and the subsequent noninvasive detection of trisomy 13. © 2012 John Wiley & Sons, Ltd.</p>
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