Segregation analyses and a genome‐wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families
Identifieur interne : 005251 ( Istex/Corpus ); précédent : 005250; suivant : 005252Segregation analyses and a genome‐wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families
Auteurs : Catharine J. Holberg ; Robert P. Erickson ; Michael J. Bernas ; Marlys H. Witte ; Kimberly E. Fultz ; M. Andrade ; Charles L. WitteSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 2001-02-01.
Abstract
We previously described six families with Milroy congenital lymphedema, only one of which showed possible linkage to a candidate locus on chromosome 5 [Witte et al., 1998]. We have now performed a complex segregation analysis of these families, and performed linkage analyses with the other 387 markers used in our genome‐wide search. Our results confirm that Milroy lymphedema is generally inherited as a dominant condition. However, this mode of inheritance, as elucidated from the segregation analyses, did not account for all observed familial correlations. The segregation analysis also suggested that shared environmental or additional genetic factors are important in explaining the observed familial aggregation. The finding of linkage to multiple locations in the largest family studied by multipoint parametric mapping (one of which was confirmed by sib‐pair non‐parametric mapping), suggests that Milroy congenital lymphedema may be oligogenic in this family. © 2001 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/1096-8628(20010201)98:4<303::AID-AJMG1113>3.0.CO;2-9
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Holberg</name><affiliation><mods:affiliation>Respiratory Sciences Center, University of Arizona College of Medicine, Tucson, Arizona</mods:affiliation></affiliation></author><author><name sortKey="Erickson, Robert P" sort="Erickson, Robert P" uniqKey="Erickson R" first="Robert P." last="Erickson">Robert P. Erickson</name><affiliation><mods:affiliation>Steele Memorial Children's Research Center, Department of Pediatrics, University of Arizona College of Medicine, Tucson, Arizona</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Molecular and Cellular Biology, University of Arizona College of Medicine, Tucson, Arizona</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Pediatrics, University of Arizona College of Medicine, 1501 N. Campbell Avenue, P.O. 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Fultz</name><affiliation><mods:affiliation>Department of Molecular and Cellular Biology, University of Arizona College of Medicine, Tucson, Arizona</mods:affiliation></affiliation></author><author><name sortKey="Andrade, M" sort="Andrade, M" uniqKey="Andrade M" first="M." last="Andrade">M. Andrade</name><affiliation><mods:affiliation>Department of Surgery, University of São Paulo, São Paulo, Brazil</mods:affiliation></affiliation></author><author><name sortKey="Witte, Charles L" sort="Witte, Charles L" uniqKey="Witte C" first="Charles L." last="Witte">Charles L. 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The finding of linkage to multiple locations in the largest family studied by multipoint parametric mapping (one of which was confirmed by sib‐pair non‐parametric mapping), suggests that Milroy congenital lymphedema may be oligogenic in this family. © 2001 Wiley‐Liss, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>lymphedema</json:string><json:string>chromosome</json:string><json:string>milroy</json:string><json:string>genet</json:string><json:string>mendelian</json:string><json:string>allele</json:string><json:string>milroy lymphedema</json:string><json:string>multipoint</json:string><json:string>segregation analysis</json:string><json:string>heterogeneity</json:string><json:string>witte</json:string><json:string>elston</json:string><json:string>penetrance</json:string><json:string>holberg</json:string><json:string>regressive</json:string><json:string>sibling</json:string><json:string>residual family effects</json:string><json:string>linkage analyses</json:string><json:string>recessive</json:string><json:string>linkage</json:string><json:string>segregation analyses</json:string><json:string>marker</json:string><json:string>arizona college</json:string><json:string>parameter estimates</json:string><json:string>family members</json:string><json:string>residual</json:string><json:string>sibling covariant</json:string><json:string>mendelian inheritance</json:string><json:string>unrestricted model</json:string><json:string>sibling correlation</json:string><json:string>linear regression analysis</json:string><json:string>distribution model</json:string><json:string>locus</json:string><json:string>major type</json:string><json:string>medical research foundation</json:string><json:string>grant sponsor</json:string><json:string>genetic epidemiology</json:string><json:string>model parameters</json:string><json:string>discrete traits</json:string><json:string>possible oligogenic milroy inheritance</json:string><json:string>familial aggregation</json:string><json:string>linkage analysis</json:string><json:string>nuclear families</json:string><json:string>complex segregation analysis</json:string><json:string>major gene</json:string><json:string>genetic heterogeneity</json:string><json:string>venous malformations</json:string><json:string>locus heterogeneity</json:string><json:string>pedigree</json:string><json:string>trait</json:string><json:string>inheritance</json:string><json:string>environmental models</json:string><json:string>ascertainment correction</json:string><json:string>dominant mode</json:string><json:string>loge likelihood</json:string><json:string>respir crit care</json:string><json:string>baseline parameter</json:string><json:string>half sibs</json:string><json:string>negative slope</json:string><json:string>parametric linkage analysis</json:string><json:string>familial correlations</json:string><json:string>testing site</json:string><json:string>national center</json:string><json:string>study population</json:string><json:string>common environment</json:string><json:string>mendelian transmission</json:string><json:string>milory lymphedema</json:string><json:string>maximum likelihood algorithm</json:string><json:string>familial correlation</json:string><json:string>major gene segregation</json:string><json:string>statistical analysis</json:string><json:string>research resources</json:string><json:string>spline curve</json:string><json:string>other hand</json:string><json:string>linkage study</json:string><json:string>waardenburg syndrome type</json:string><json:string>cleft palate</json:string><json:string>large brazilian family</json:string><json:string>susceptibility locus</json:string><json:string>neonatal lymphedema</json:string><json:string>rehabilitation institute</json:string><json:string>small family</json:string><json:string>possible linkage</json:string><json:string>digenic inheritance</json:string><json:string>multilocus analysis</json:string><json:string>proc natl acad</json:string><json:string>white families</json:string><json:string>genetic effects</json:string><json:string>familial</json:string></teeft></keywords><author><json:item><name>Catharine J. Holberg</name><affiliations><json:string>Respiratory Sciences Center, University of Arizona College of Medicine, Tucson, Arizona</json:string></affiliations></json:item><json:item><name>Robert P. Erickson</name><affiliations><json:string>Steele Memorial Children's Research Center, Department of Pediatrics, University of Arizona College of Medicine, Tucson, Arizona</json:string><json:string>Department of Molecular and Cellular Biology, University of Arizona College of Medicine, Tucson, Arizona</json:string><json:string>Department of Pediatrics, University of Arizona College of Medicine, 1501 N. Campbell Avenue, P.O. Box 245073, Tucson, AZ 85724‐5073</json:string></affiliations></json:item><json:item><name>Michael J. Bernas</name><affiliations><json:string>Department of Surgery, University of Arizona College of Medicine, Tucson, Arizona</json:string></affiliations></json:item><json:item><name>Marlys H. Witte</name><affiliations><json:string>Department of Surgery, University of Arizona College of Medicine, Tucson, Arizona</json:string></affiliations></json:item><json:item><name>Kimberly E. Fultz</name><affiliations><json:string>Department of Molecular and Cellular Biology, University of Arizona College of Medicine, Tucson, Arizona</json:string></affiliations></json:item><json:item><name>M. Andrade</name><affiliations><json:string>Department of Surgery, University of São Paulo, São Paulo, Brazil</json:string></affiliations></json:item><json:item><name>Charles L. Witte</name><affiliations><json:string>Department of Surgery, University of Arizona College of Medicine, Tucson, Arizona</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>segregation analysis</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genome‐wide search</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Milroy congenital lymphedema</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>sib‐pair linkage analysis</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>multipoint parametric linkage analyses</value></json:item></subject><articleId><json:string>AJMG1113</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>We previously described six families with Milroy congenital lymphedema, only one of which showed possible linkage to a candidate locus on chromosome 5 [Witte et al., 1998]. We have now performed a complex segregation analysis of these families, and performed linkage analyses with the other 387 markers used in our genome‐wide search. Our results confirm that Milroy lymphedema is generally inherited as a dominant condition. However, this mode of inheritance, as elucidated from the segregation analyses, did not account for all observed familial correlations. The segregation analysis also suggested that shared environmental or additional genetic factors are important in explaining the observed familial aggregation. The finding of linkage to multiple locations in the largest family studied by multipoint parametric mapping (one of which was confirmed by sib‐pair non‐parametric mapping), suggests that Milroy congenital lymphedema may be oligogenic in this family. © 2001 Wiley‐Liss, Inc.</abstract><qualityIndicators><score>6.728</score><pdfVersion>1.2</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>994</abstractCharCount><pdfWordCount>5505</pdfWordCount><pdfCharCount>37447</pdfCharCount><pdfPageCount>10</pdfPageCount><abstractWordCount>144</abstractWordCount></qualityIndicators><title>Segregation analyses and a genome‐wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families</title><genre><json:string>article</json:string></genre><host><title>American Journal of Medical Genetics</title><language><json:string>unknown</json:string></language><doi><json:string>10.1002/(ISSN)1096-8628</json:string></doi><issn><json:string>0148-7299</json:string></issn><eissn><json:string>1096-8628</json:string></eissn><publisherId><json:string>AJMG</json:string></publisherId><volume>98</volume><issue>4</issue><pages><first>303</first><last>312</last><total>10</total></pages><genre><json:string>journal</json:string></genre><subject><json:item><value>Research Article</value></json:item></subject></host><publicationDate>2001</publicationDate><copyrightDate>2001</copyrightDate><doi><json:string>10.1002/1096-8628(20010201)98:4>303::AID-AJMG1113>3.0.CO;2-9</json:string></doi><id>AFBEAC1346A586608500CD9844B8FE6B0298C362</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/AFBEAC1346A586608500CD9844B8FE6B0298C362/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/AFBEAC1346A586608500CD9844B8FE6B0298C362/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/AFBEAC1346A586608500CD9844B8FE6B0298C362/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Segregation analyses and a genome‐wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families</title></titleStmt><publicationStmt><publisher>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><availability><licence>Copyright © 2001 Wiley‐Liss, Inc.</licence></availability><date type="published" when="2001-02-01"></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" xml:lang="en">Segregation analyses and a genome‐wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families</title><title level="a" type="short" xml:lang="en">Possible Oligogenic Milroy Inheritance</title><author xml:id="author-0000"><persName><forename type="first">Catharine J.</forename><surname>Holberg</surname></persName><affiliation>Respiratory Sciences Center, University of Arizona College of Medicine, Tucson, Arizona<address><country key="US"></country></address></affiliation></author><author xml:id="author-0001" role="corresp"><persName><forename type="first">Robert P.</forename><surname>Erickson</surname></persName><email>erickson@peds.arizona.edu</email><affiliation>Steele Memorial Children's Research Center, Department of Pediatrics, University of Arizona College of Medicine, Tucson, Arizona<address><country key="US"></country></address></affiliation><affiliation>Department of Molecular and Cellular Biology, University of Arizona College of Medicine, Tucson, Arizona<address><country key="US"></country></address></affiliation><affiliation>Department of Pediatrics, University of Arizona College of Medicine, 1501 N. Campbell Avenue, P.O. Box 245073, Tucson, AZ 85724‐5073</affiliation></author><author xml:id="author-0002"><persName><forename type="first">Michael J.</forename><surname>Bernas</surname></persName><affiliation>Department of Surgery, University of Arizona College of Medicine, Tucson, Arizona<address><country key="US"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">Marlys H.</forename><surname>Witte</surname></persName><affiliation>Department of Surgery, University of Arizona College of Medicine, Tucson, Arizona<address><country key="US"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">Kimberly E.</forename><surname>Fultz</surname></persName><affiliation>Department of Molecular and Cellular Biology, University of Arizona College of Medicine, Tucson, Arizona<address><country key="US"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">M.</forename><surname>Andrade</surname></persName><affiliation>Department of Surgery, University of São Paulo, São Paulo, Brazil<address><country key="US"></country></address></affiliation></author><author xml:id="author-0006"><persName><forename type="first">Charles L.</forename><surname>Witte</surname></persName><affiliation>Department of Surgery, University of Arizona College of Medicine, Tucson, Arizona<address><country key="US"></country></address></affiliation></author><idno type="istex">AFBEAC1346A586608500CD9844B8FE6B0298C362</idno><idno type="DOI">10.1002/1096-8628(20010201)98:4<303::AID-AJMG1113>3.0.CO;2-9</idno><idno type="unit">AJMG1113</idno><idno type="toTypesetVersion">file:AJMG.AJMG1113.pdf</idno></analytic><monogr><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="pISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><idno type="book-DOI">10.1002/(ISSN)1096-8628</idno><idno type="book-part-DOI">10.1002/1096-8628(20010201)98:4<>1.0.CO;2-F</idno><idno type="product">AJMG</idno><imprint><biblScope unit="vol">98</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="303">303</biblScope><biblScope unit="page" to="312">312</biblScope><biblScope unit="page-count">10</biblScope><publisher>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><date type="published" when="2001-02-01"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="fr" style="main"><head>Abstract</head><p>We previously described six families with Milroy congenital lymphedema, only one of which showed possible linkage to a candidate locus on chromosome 5 [Witte et al., <ref type="bibr" target="#bib39">1998</ref>]. We have now performed a complex segregation analysis of these families, and performed linkage analyses with the other 387 markers used in our genome‐wide search. Our results confirm that Milroy lymphedema is generally inherited as a dominant condition. However, this mode of inheritance, as elucidated from the segregation analyses, did not account for all observed familial correlations. The segregation analysis also suggested that shared environmental or additional genetic factors are important in explaining the observed familial aggregation. The finding of linkage to multiple locations in the largest family studied by multipoint parametric mapping (one of which was confirmed by sib‐pair non‐parametric mapping), suggests that Milroy congenital lymphedema may be oligogenic in this family. © 2001 Wiley‐Liss, Inc.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">segregation analysis</term><term xml:id="kwd2">genome‐wide search</term><term xml:id="kwd3">Milroy congenital lymphedema</term><term xml:id="kwd4">sib‐pair linkage analysis</term><term xml:id="kwd5">multipoint parametric linkage analyses</term></keywords><classCode scheme="articleCategory">Research Article</classCode><classCode scheme="tocHeading1">Research Articles</classCode></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/AFBEAC1346A586608500CD9844B8FE6B0298C362/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 version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>John Wiley & Sons, Inc.</publisherName><publisherLoc>New York</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1096-8628</doi><issn type="print">0148-7299</issn><issn type="electronic">1096-8628</issn><idGroup><id type="product" value="AJMG"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="AMERICAN JOURNAL OF MEDICAL GENETICS">American Journal of Medical Genetics</title><title type="short">Am. 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Genet.</title></titleGroup></publicationMeta><publicationMeta level="part" position="40"><doi origin="wiley" registered="yes">10.1002/1096-8628(20010201)98:4<>1.0.CO;2-F</doi><idGroup><id type="focusSection" value="0"></id></idGroup><titleGroup><title type="focusSection" xml:lang="en">American Journal of Medical Genetics</title></titleGroup><numberingGroup><numbering type="journalVolume" number="98">98</numbering><numbering type="journalIssue">4</numbering></numberingGroup><coverDate startDate="2001-02-01">1 February 2001</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="5" status="forIssue"><doi origin="wiley" registered="yes">10.1002/1096-8628(20010201)98:4<303::AID-AJMG1113>3.0.CO;2-9</doi><idGroup><id type="unit" value="AJMG1113"></id></idGroup><countGroup><count type="pageTotal" number="10"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="publisher">Copyright © 2001 Wiley‐Liss, Inc.</copyright><eventGroup><event type="manuscriptReceived" date="2000-03-22"></event><event type="manuscriptAccepted" date="2000-10-11"></event><event type="firstOnline" date="2001-01-19"></event><event type="publishedOnlineFinalForm" date="2001-01-19"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.4.7 mode:FullText source:FullText result:FullText" date="2011-02-24"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-14"></event></eventGroup><numberingGroup><numbering type="pageFirst">303</numbering><numbering type="pageLast">312</numbering></numberingGroup><correspondenceTo>Department of Pediatrics, University of Arizona College of Medicine, 1501 N. Campbell Avenue, P.O. Box 245073, Tucson, AZ 85724‐5073</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:AJMG.AJMG1113.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="6"></count><count type="referenceTotal" number="39"></count><count type="wordTotal" number="8543"></count></countGroup><titleGroup><title type="main" xml:lang="en">Segregation analyses and a genome‐wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families</title><title type="short" xml:lang="en">Possible Oligogenic Milroy Inheritance</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Catharine J.</givenNames><familyName>Holberg</familyName></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2 #af3" corresponding="yes"><personName><givenNames>Robert P.</givenNames><familyName>Erickson</familyName></personName><contactDetails><email>erickson@peds.arizona.edu</email></contactDetails></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Michael J.</givenNames><familyName>Bernas</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Marlys H.</givenNames><familyName>Witte</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Kimberly E.</givenNames><familyName>Fultz</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af5"><personName><givenNames>M.</givenNames><familyName>Andrade</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Charles L.</givenNames><familyName>Witte</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Respiratory Sciences Center, University of Arizona College of Medicine, Tucson, Arizona</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Steele Memorial Children's Research Center, Department of Pediatrics, University of Arizona College of Medicine, Tucson, Arizona</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>Department of Molecular and Cellular Biology, University of Arizona College of Medicine, Tucson, Arizona</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="US" type="organization"><unparsedAffiliation>Department of Surgery, University of Arizona College of Medicine, Tucson, Arizona</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="US" type="organization"><unparsedAffiliation>Department of Surgery, University of São Paulo, São Paulo, Brazil</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">segregation analysis</keyword><keyword xml:id="kwd2">genome‐wide search</keyword><keyword xml:id="kwd3">Milroy congenital lymphedema</keyword><keyword xml:id="kwd4">sib‐pair linkage analysis</keyword><keyword xml:id="kwd5">multipoint parametric linkage analyses</keyword></keywordGroup><fundingInfo><fundingAgency>U.S. Public Health Service grant from National Center for Research Resources</fundingAgency><fundingNumber>1 P41 RR03655</fundingNumber></fundingInfo><fundingInfo><fundingAgency>Health South Rehabilitation Institute of Tucson</fundingAgency></fundingInfo><fundingInfo><fundingAgency>NHLBI grant from Marshfield Medical Research Foundation</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="fr"><title type="main">Abstract</title><p>We previously described six families with Milroy congenital lymphedema, only one of which showed possible linkage to a candidate locus on chromosome 5 [Witte et al., <link href="#bib39">1998</link>]. We have now performed a complex segregation analysis of these families, and performed linkage analyses with the other 387 markers used in our genome‐wide search. Our results confirm that Milroy lymphedema is generally inherited as a dominant condition. However, this mode of inheritance, as elucidated from the segregation analyses, did not account for all observed familial correlations. The segregation analysis also suggested that shared environmental or additional genetic factors are important in explaining the observed familial aggregation. The finding of linkage to multiple locations in the largest family studied by multipoint parametric mapping (one of which was confirmed by sib‐pair non‐parametric mapping), suggests that Milroy congenital lymphedema may be oligogenic in this family. © 2001 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Segregation analyses and a genome‐wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Possible Oligogenic Milroy Inheritance</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Segregation analyses and a genome‐wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families</title></titleInfo><name type="personal"><namePart type="given">Catharine J.</namePart><namePart type="family">Holberg</namePart><affiliation>Respiratory Sciences Center, University of Arizona College of Medicine, Tucson, Arizona</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Robert P.</namePart><namePart type="family">Erickson</namePart><affiliation>Steele Memorial Children's Research Center, Department of Pediatrics, University of Arizona College of Medicine, Tucson, Arizona</affiliation><affiliation>Department of Molecular and Cellular Biology, University of Arizona College of Medicine, Tucson, Arizona</affiliation><affiliation>Department of Pediatrics, University of Arizona College of Medicine, 1501 N. Campbell Avenue, P.O. Box 245073, Tucson, AZ 85724‐5073</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Michael J.</namePart><namePart type="family">Bernas</namePart><affiliation>Department of Surgery, University of Arizona College of Medicine, Tucson, Arizona</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marlys H.</namePart><namePart type="family">Witte</namePart><affiliation>Department of Surgery, University of Arizona College of Medicine, Tucson, Arizona</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kimberly E.</namePart><namePart type="family">Fultz</namePart><affiliation>Department of Molecular and Cellular Biology, University of Arizona College of Medicine, Tucson, Arizona</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M.</namePart><namePart type="family">Andrade</namePart><affiliation>Department of Surgery, University of São Paulo, São Paulo, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Charles L.</namePart><namePart type="family">Witte</namePart><affiliation>Department of Surgery, University of Arizona College of Medicine, Tucson, Arizona</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>John Wiley & Sons, Inc.</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">2001-02-01</dateIssued><dateCaptured encoding="w3cdtf">2000-03-22</dateCaptured><dateValid encoding="w3cdtf">2000-10-11</dateValid><copyrightDate encoding="w3cdtf">2001</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="tables">6</extent><extent unit="references">39</extent><extent unit="words">8543</extent></physicalDescription><abstract lang="fr">We previously described six families with Milroy congenital lymphedema, only one of which showed possible linkage to a candidate locus on chromosome 5 [Witte et al., 1998]. We have now performed a complex segregation analysis of these families, and performed linkage analyses with the other 387 markers used in our genome‐wide search. Our results confirm that Milroy lymphedema is generally inherited as a dominant condition. However, this mode of inheritance, as elucidated from the segregation analyses, did not account for all observed familial correlations. The segregation analysis also suggested that shared environmental or additional genetic factors are important in explaining the observed familial aggregation. The finding of linkage to multiple locations in the largest family studied by multipoint parametric mapping (one of which was confirmed by sib‐pair non‐parametric mapping), suggests that Milroy congenital lymphedema may be oligogenic in this family. © 2001 Wiley‐Liss, Inc.</abstract><note type="funding">U.S. Public Health Service grant from National Center for Research Resources - No. 1 P41 RR03655; </note><note type="funding">Health South Rehabilitation Institute of Tucson</note><note type="funding">NHLBI grant from Marshfield Medical Research Foundation</note><subject lang="en"><genre>keywords</genre><topic>segregation analysis</topic><topic>genome‐wide search</topic><topic>Milroy congenital lymphedema</topic><topic>sib‐pair linkage analysis</topic><topic>multipoint parametric linkage analyses</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. Genet.</title></titleInfo><genre type="journal">journal</genre><subject><genre>article-category</genre><topic>Research Article</topic></subject><identifier type="ISSN">0148-7299</identifier><identifier type="eISSN">1096-8628</identifier><identifier type="DOI">10.1002/(ISSN)1096-8628</identifier><identifier type="PublisherID">AJMG</identifier><part><date>2001</date><detail type="volume"><caption>vol.</caption><number>98</number></detail><detail type="issue"><caption>no.</caption><number>4</number></detail><extent unit="pages"><start>303</start><end>312</end><total>10</total></extent></part></relatedItem><identifier type="istex">AFBEAC1346A586608500CD9844B8FE6B0298C362</identifier><identifier type="DOI">10.1002/1096-8628(20010201)98:4<303::AID-AJMG1113>3.0.CO;2-9</identifier><identifier type="ArticleID">AJMG1113</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2001 Wiley‐Liss, Inc.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>John Wiley & Sons, Inc.</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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