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
ISTEX:AA48AB8E3ECA3FB3D48323B8DAEAFA830F1795A4Le document en format XML
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trisomy</term><term>Genome</term><term>Gestational</term><term>Gestational weeks</term><term>Hypermethylated</term><term>Hypothetical protein</term><term>Isoform</term><term>John wiley sons</term><term>Leung</term><term>Locus</term><term>Mass spectrometry</term><term>Maternal</term><term>Maternal leukocytes</term><term>Maternal plasma</term><term>Methylated</term><term>Methylation</term><term>Microarray</term><term>Microarray analysis</term><term>Noninvasive</term><term>Noninvasive detection</term><term>Noninvasive diagnosis</term><term>Placental</term><term>Potential biomarkers</term><term>Prenatal</term><term>Prenatal diagnosis</term><term>Primer</term><term>Proteinase inhibitor</term><term>Selective recovery</term><term>Trisomy</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Aneuploidy</term><term>Biomarkers</term><term>Chem</term><term>Chiu</term><term>Chorionic villus sampling</term><term>Chromosome</term><term>Clin</term><term>Clin chem</term><term>Cpgs</term><term>Differentially</term><term>Differentially methylated</term><term>Dmrs</term><term>Epigenetic</term><term>Epigenetic biomarker discovery</term><term>Epityper</term><term>Fetal</term><term>Fetal alleles</term><term>Fetal aneuploidy</term><term>Fetal trisomy</term><term>Genome</term><term>Gestational</term><term>Gestational weeks</term><term>Hypermethylated</term><term>Hypothetical protein</term><term>Isoform</term><term>John wiley sons</term><term>Leung</term><term>Locus</term><term>Mass spectrometry</term><term>Maternal</term><term>Maternal leukocytes</term><term>Maternal plasma</term><term>Methylated</term><term>Methylation</term><term>Microarray</term><term>Microarray analysis</term><term>Noninvasive</term><term>Noninvasive detection</term><term>Noninvasive diagnosis</term><term>Placental</term><term>Potential biomarkers</term><term>Prenatal</term><term>Prenatal diagnosis</term><term>Primer</term><term>Proteinase inhibitor</term><term>Selective 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USA</json:string></affiliations></json:item><json:item><name>Urvashi Surti</name><affiliations><json:string>Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA</json:string><json:string>Centre for Fetal Medicine, Magee‐Womens Research Institute, PA, Pittsburgh, USA</json:string></affiliations></json:item><json:item><name>William Allen Hogge</name><affiliations><json:string>Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA</json:string><json:string>Centre for Fetal Medicine, Magee‐Womens Research Institute, PA, Pittsburgh, USA</json:string></affiliations></json:item><json:item><name>David G. 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Peters</json:string><json:string>William Allen</json:string></persName><placeName><json:string>San Diego</json:string><json:string>IA</json:string><json:string>Puri</json:string><json:string>CA</json:string><json:string>Coralville</json:string></placeName><ref_url></ref_url><ref_bibl><json:string>Iovannisci et al.</json:string><json:string>K. Bunce et al.</json:string></ref_bibl><bibl></bibl></unitex></namedEntities><ark><json:string>ark:/67375/WNG-CZWNVCNW-6</json:string></ark><categories><wos><json:string>1 - science</json:string><json:string>2 - obstetrics & gynecology</json:string><json:string>2 - genetics & heredity</json:string></wos><scienceMetrix><json:string>1 - health sciences</json:string><json:string>2 - clinical medicine</json:string><json:string>3 - obstetrics & reproductive medicine</json:string></scienceMetrix><scopus><json:string>1 - Health Sciences</json:string><json:string>2 - Medicine</json:string><json:string>3 - Genetics(clinical)</json:string><json:string>1 - Health Sciences</json:string><json:string>2 - Medicine</json:string><json:string>3 - Obstetrics and Gynaecology</json:string></scopus></categories><publicationDate>2012</publicationDate><copyrightDate>2012</copyrightDate><doi><json:string>10.1002/pd.3853</json:string></doi><id>AA48AB8E3ECA3FB3D48323B8DAEAFA830F1795A4</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/AA48AB8E3ECA3FB3D48323B8DAEAFA830F1795A4/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/AA48AB8E3ECA3FB3D48323B8DAEAFA830F1795A4/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/AA48AB8E3ECA3FB3D48323B8DAEAFA830F1795A4/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main">Discovery of epigenetic biomarkers for the noninvasive diagnosis of fetal disease</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>John Wiley & Sons, Ltd</publisher><pubPlace>Chichester, UK</pubPlace><availability><licence>© 2012 John Wiley & Sons, Ltd.</licence></availability><date type="published" when="2012-06"></date></publicationStmt><notesStmt><note type="content-type" subtype="article" source="article" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</note><note type="publication-type" subtype="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note></notesStmt><sourceDesc><biblStruct type="article"><analytic><title level="a" type="main">Discovery of epigenetic biomarkers for the noninvasive diagnosis of fetal disease</title><title level="a" type="short">Epigenetic biomarker discovery for fetal aneuploidy</title><author xml:id="author-0000"><persName><forename type="first">Kimberly</forename><surname>Bunce</surname></persName><affiliation><orgName>Department of Obstetrics, Gynecology and Reproductive Sciences</orgName><orgName>University of Pittsburgh</orgName><address><settlement type="city">Pittsburgh</settlement><region>PA</region><country key="US">USA</country></address></affiliation><affiliation><orgName>Centre for Fetal Medicine</orgName><orgName>Magee‐Womens Research Institute</orgName><address><settlement type="city">Pittsburgh</settlement><region>PA</region><country key="US">USA</country></address></affiliation></author><author xml:id="author-0001"><persName><forename type="first">Tianjiao</forename><surname>Chu</surname></persName><affiliation><orgName>Department of Obstetrics, Gynecology and Reproductive Sciences</orgName><orgName>University of Pittsburgh</orgName><address><settlement type="city">Pittsburgh</settlement><region>PA</region><country key="US">USA</country></address></affiliation><affiliation><orgName>Centre for Fetal Medicine</orgName><orgName>Magee‐Womens Research Institute</orgName><address><settlement type="city">Pittsburgh</settlement><region>PA</region><country key="US">USA</country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">Urvashi</forename><surname>Surti</surname></persName><affiliation><orgName>Department of Obstetrics, Gynecology and Reproductive Sciences</orgName><orgName>University of Pittsburgh</orgName><address><settlement type="city">Pittsburgh</settlement><region>PA</region><country key="US">USA</country></address></affiliation><affiliation><orgName>Centre for Fetal Medicine</orgName><orgName>Magee‐Womens Research Institute</orgName><address><settlement type="city">Pittsburgh</settlement><region>PA</region><country key="US">USA</country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">William Allen</forename><surname>Hogge</surname></persName><affiliation><orgName>Department of Obstetrics, Gynecology and Reproductive Sciences</orgName><orgName>University of Pittsburgh</orgName><address><settlement type="city">Pittsburgh</settlement><region>PA</region><country key="US">USA</country></address></affiliation><affiliation><orgName>Centre for Fetal Medicine</orgName><orgName>Magee‐Womens Research Institute</orgName><address><settlement type="city">Pittsburgh</settlement><region>PA</region><country key="US">USA</country></address></affiliation></author><author xml:id="author-0004" role="corresp"><persName><forename type="first">David G.</forename><surname>Peters</surname></persName><email>david.peters@mail.hgen.pitt.edu</email><affiliation><orgName>Department of Obstetrics, Gynecology and Reproductive Sciences</orgName><orgName>University of Pittsburgh</orgName><address><settlement type="city">Pittsburgh</settlement><region>PA</region><country key="US">USA</country></address></affiliation><affiliation><orgName>Centre for Fetal Medicine</orgName><orgName>Magee‐Womens Research Institute</orgName><address><settlement type="city">Pittsburgh</settlement><region>PA</region><country key="US">USA</country></address></affiliation><affiliation><orgName>Department of Obstetrics, Gynecology and Reproductive Sciences</orgName><orgName>University of Pittsburgh</orgName><address><settlement type="city">Pittsburgh</settlement><country key="US">PAUSA</country></address></affiliation><affiliation>David G. Peters. E‐mail: david.peters@mail.hgen.pitt.edu</affiliation></author><idno type="istex">AA48AB8E3ECA3FB3D48323B8DAEAFA830F1795A4</idno><idno type="ark">ark:/67375/WNG-CZWNVCNW-6</idno><idno type="DOI">10.1002/pd.3853</idno><idno type="unit">PD3853</idno><idno type="toTypesetVersion">file:PD.PD3853.pdf</idno></analytic><monogr><title level="j" type="main">Prenatal Diagnosis</title><title level="j" type="alt">PRENATAL DIAGNOSIS</title><idno type="pISSN">0197-3851</idno><idno type="eISSN">1097-0223</idno><idno type="book-DOI">10.1002/(ISSN)1097-0223</idno><idno type="book-part-DOI">10.1002/pd.v32.6</idno><idno type="product">PD</idno><imprint><biblScope unit="vol">32</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="542">542</biblScope><biblScope unit="page" to="549">549</biblScope><biblScope unit="page-count">8</biblScope><publisher>John Wiley & Sons, Ltd</publisher><pubPlace>Chichester, UK</pubPlace><date type="published" when="2012-06"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><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></abstract><textClass><keywords rend="articleCategory"><term>Original Article</term></keywords><keywords rend="tocHeading1"><term>Original Articles</term></keywords></textClass><langUsage><language ident="en"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/AA48AB8E3ECA3FB3D48323B8DAEAFA830F1795A4/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component type="serialArticle" version="2.0" xml:lang="en" xml:id="pd3853"><header><publicationMeta level="product"><publisherInfo><publisherName>John Wiley & Sons, Ltd</publisherName><publisherLoc>Chichester, UK</publisherLoc></publisherInfo><doi>10.1002/(ISSN)1097-0223</doi><issn type="print">0197-3851</issn><issn type="electronic">1097-0223</issn><idGroup><id type="product" value="PD"></id></idGroup><titleGroup><title type="main" sort="PRENATAL DIAGNOSIS">Prenatal Diagnosis</title><title type="short">Prenat Diagn</title></titleGroup></publicationMeta><publicationMeta level="part" position="06106"><doi>10.1002/pd.v32.6</doi><copyright ownership="publisher">Copyright © 2012 John Wiley & Sons, Ltd.</copyright><numberingGroup><numbering type="journalVolume" number="32">32</numbering><numbering type="journalIssue">6</numbering></numberingGroup><coverDate startDate="2012-06">June 2012</coverDate></publicationMeta><publicationMeta level="unit" position="60" type="article" status="forIssue"><doi>10.1002/pd.3853</doi><idGroup><id type="unit" value="PD3853"></id></idGroup><countGroup><count type="pageTotal" number="8"></count></countGroup><titleGroup><title type="articleCategory">Original Article</title><title type="tocHeading1">Original Articles</title></titleGroup><copyright ownership="publisher">© 2012 John Wiley & Sons, Ltd.</copyright><eventGroup><event type="manuscriptReceived" date="2011-10-24"></event><event type="manuscriptRevised" date="2012-01-09"></event><event type="manuscriptAccepted" date="2012-01-18"></event><event type="xmlCreated" agent="SPi Global" date="2012-01-26"></event><event type="publishedOnlineEarlyUnpaginated" date="2012-04-11"></event><event type="publishedOnlineFinalForm" date="2012-05-23"></event><event type="firstOnline" date="2012-04-11"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-06"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.3.4 mode:FullText" date="2015-02-24"></event></eventGroup><numberingGroup><numbering type="pageFirst">542</numbering><numbering type="pageLast">549</numbering></numberingGroup><correspondenceTo>David G. Peters. E‐mail: <email>david.peters@mail.hgen.pitt.edu</email></correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:PD.PD3853.pdf"></link></linkGroup></publicationMeta><contentMeta><titleGroup><title type="main">Discovery of epigenetic biomarkers for the noninvasive diagnosis of fetal disease</title><title type="short">Epigenetic biomarker discovery for fetal aneuploidy</title><title type="shortAuthors">K. Bunce <i>et al.</i></title></titleGroup><creators><creator creatorRole="author" xml:id="pd3853-cr-0001" affiliationRef="#pd3853-aff-0001 #pd3853-aff-0002"><personName><givenNames>Kimberly</givenNames><familyName>Bunce</familyName></personName></creator><creator creatorRole="author" xml:id="pd3853-cr-0002" affiliationRef="#pd3853-aff-0001 #pd3853-aff-0002"><personName><givenNames>Tianjiao</givenNames><familyName>Chu</familyName></personName></creator><creator creatorRole="author" xml:id="pd3853-cr-0003" affiliationRef="#pd3853-aff-0001 #pd3853-aff-0002"><personName><givenNames>Urvashi</givenNames><familyName>Surti</familyName></personName></creator><creator creatorRole="author" xml:id="pd3853-cr-0004" affiliationRef="#pd3853-aff-0001 #pd3853-aff-0002"><personName><givenNames>William Allen</givenNames><familyName>Hogge</familyName></personName></creator><creator creatorRole="author" xml:id="pd3853-cr-0005" affiliationRef="#pd3853-aff-0001 #pd3853-aff-0002 #pd3853-aff-0003" corresponding="yes"><personName><givenNames>David G.</givenNames><familyName>Peters</familyName></personName><contactDetails><email>david.peters@mail.hgen.pitt.edu</email></contactDetails></creator></creators><affiliationGroup><affiliation countryCode="US" type="organization" xml:id="pd3853-aff-0001"><orgDiv>Department of Obstetrics, Gynecology and Reproductive Sciences</orgDiv><orgName>University of Pittsburgh</orgName><address><city>Pittsburgh</city><countryPart>PA</countryPart><country>USA</country></address></affiliation><affiliation countryCode="US" type="organization" xml:id="pd3853-aff-0002"><orgDiv>Centre for Fetal Medicine</orgDiv><orgName>Magee‐Womens Research Institute</orgName><address><city>Pittsburgh</city><countryPart>PA</countryPart><country>USA</country></address></affiliation><affiliation countryCode="US" type="organization" xml:id="pd3853-aff-0003"><orgDiv>Department of Obstetrics, Gynecology and Reproductive Sciences</orgDiv><orgName>University of Pittsburgh</orgName><address><city>Pittsburgh</city><country>PA</country><country>USA</country></address></affiliation></affiliationGroup><fundingInfo><fundingAgency>Magee‐Womens Research Institute and Foundation</fundingAgency></fundingInfo><fundingInfo><fundingAgency>National Institute of Health</fundingAgency></fundingInfo><supportingInformation><p>Supporting information can be found in on line version of this article</p><supportingInfoItem><mediaResource alt="supplementary data" mimeType="application/vnd.openxmlformats-officedocument.spreadsheetml.sheet" href="urn-x:wiley:01973851:media:pd3853:pd_3853_sm_tables"></mediaResource><caption>Supporting Information</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main"><title type="main">ABSTRACT</title><section xml:id="pd3853-sec-0010"><title type="main">Objectives</title><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></section><section xml:id="pd3853-sec-0011"><title type="main">Methods</title><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></section><section xml:id="pd3853-sec-0012"><title type="main">Results</title><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></section><section xml:id="pd3853-sec-0013"><title type="main">Conclusions</title><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></section></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="pd3853-note-0001" numbered="no">Funding sources: This work was supported by grants (to DGP) from the Magee‐Womens Research Institute and Foundation and the National Institutes of Health (1R01HD068578‐01). The funders had no role or influence regarding study design, data collection, data analysis, manuscript preparation, and/or publication decision.</note><note xml:id="pd3853-note-0002" numbered="no">Conflicts of interest: None declared</note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Discovery of epigenetic biomarkers for the noninvasive diagnosis of fetal disease</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Epigenetic biomarker discovery for fetal aneuploidy</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Discovery of epigenetic biomarkers for the noninvasive diagnosis of fetal disease</title></titleInfo><name type="personal"><namePart type="given">Kimberly</namePart><namePart type="family">Bunce</namePart><affiliation>Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA</affiliation><affiliation>Centre for Fetal Medicine, Magee‐Womens Research Institute, PA, Pittsburgh, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tianjiao</namePart><namePart type="family">Chu</namePart><affiliation>Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA</affiliation><affiliation>Centre for Fetal Medicine, Magee‐Womens Research Institute, PA, Pittsburgh, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Urvashi</namePart><namePart type="family">Surti</namePart><affiliation>Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA</affiliation><affiliation>Centre for Fetal Medicine, Magee‐Womens Research Institute, PA, Pittsburgh, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">William Allen</namePart><namePart type="family">Hogge</namePart><affiliation>Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA</affiliation><affiliation>Centre for Fetal Medicine, Magee‐Womens Research Institute, PA, Pittsburgh, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">David G.</namePart><namePart type="family">Peters</namePart><affiliation>Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA</affiliation><affiliation>Centre for Fetal Medicine, Magee‐Womens Research Institute, Pittsburgh, PA, USA</affiliation><affiliation>Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PAUSA</affiliation><affiliation>E-mail: david.peters@mail.hgen.pitt.edu</affiliation><affiliation>E-mail: david.peters@mail.hgen.pitt.edu</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</genre><originInfo><publisher>John Wiley & Sons, Ltd</publisher><place><placeTerm type="text">Chichester, UK</placeTerm></place><dateIssued encoding="w3cdtf">2012-06</dateIssued><dateCreated encoding="w3cdtf">2012-01-26</dateCreated><dateCaptured encoding="w3cdtf">2011-10-24</dateCaptured><dateValid encoding="w3cdtf">2012-01-18</dateValid><copyrightDate encoding="w3cdtf">2012</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><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.</abstract><abstract>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.</abstract><abstract>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.</abstract><abstract>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.</abstract><note type="funding">Magee‐Womens Research Institute and Foundation</note><note type="funding">National Institute of Health</note><relatedItem type="host"><titleInfo><title>Prenatal Diagnosis</title></titleInfo><titleInfo type="abbreviated"><title>Prenat Diagn</title></titleInfo><genre type="journal" authority="ISTEX" authorityURI="https://publication-type.data.istex.fr" valueURI="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</genre><note type="content"> Supporting information can be found in on line version of this articleSupporting Info Item: Supporting Information - </note><subject><genre>article-category</genre><topic>Original Article</topic></subject><identifier type="ISSN">0197-3851</identifier><identifier type="eISSN">1097-0223</identifier><identifier type="DOI">10.1002/(ISSN)1097-0223</identifier><identifier type="PublisherID">PD</identifier><part><date>2012</date><detail type="volume"><caption>vol.</caption><number>32</number></detail><detail type="issue"><caption>no.</caption><number>6</number></detail><extent unit="pages"><start>542</start><end>549</end><total>8</total></extent></part></relatedItem><identifier type="istex">AA48AB8E3ECA3FB3D48323B8DAEAFA830F1795A4</identifier><identifier type="ark">ark:/67375/WNG-CZWNVCNW-6</identifier><identifier type="DOI">10.1002/pd.3853</identifier><identifier type="ArticleID">PD3853</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2012 John Wiley & Sons, Ltd.© 2012 John Wiley & Sons, Ltd.</accessCondition><recordInfo><recordContentSource authority="ISTEX" authorityURI="https://loaded-corpus.data.istex.fr" valueURI="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-L0C46X92-X">wiley</recordContentSource><recordOrigin>John Wiley & Sons, Ltd</recordOrigin></recordInfo></mods><json:item><extension>json</extension><original>false</original><mimetype>application/json</mimetype><uri>https://api.istex.fr/document/AA48AB8E3ECA3FB3D48323B8DAEAFA830F1795A4/metadata/json</uri></json:item></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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