Molecular analysis of 53 fragile X families with the probe StB12.3
Identifieur interne : 000601 ( Istex/Corpus ); précédent : 000600; suivant : 000602Molecular analysis of 53 fragile X families with the probe StB12.3
Auteurs : Puissant ; M. C. Malinge ; A. Larget-Piet ; D. Martin ; P. Chauveau ; S. Odent ; G. Plessis ; Ph. Parent ; B. Lemarec ; L. Larget-PietSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1994-12-01.
English descriptors
Abstract
Fifty‐three pedigrees with the fragile X syndrome have been studied for amplification of the CGG repeat sequence adjacent to the CpG island in the FMR1 gene. Probe StB12.3 allowed direct detection of affected males, carrier females, normal transmitting males, as well as prenatal diagnosis. Comparison of our molecular data with our previous linkage data from 38 families indicates the effectiveness of direct DNA analysis. A total of 325 individuals were studied and no new mutation was found. All daughters of males with a premutation had a premutation. When the mother had a full mutation no children had a premutation. In premutated mothers, the size of the premutation seems to be a determining factor for the transition to the full mutation. All affected males had a full mutation or mosaicism and only 42% of the females with a full mutation were mentally impaired. Analysis of large families over 3 generations illustrated clearly the Sherman paradox. Furthermore, the analysis of these families is in reasonable agreement with the multiallelic model of Morton and Macpherson [Proc Natl Acad Sci USA 89:4215–4217, 1992]. Mosaic cases in the offspring of the mothers with a full mutation suggest a maternal germinal mosaicism. Then an abnormal methylation and a somatic heterogeneity established in very early steps of embryogenesis could explain these Cases. © 1994 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.1320530413
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ISTEX:4C3C9AF2133C40D86B9FA2CCC37A61C8C26EF37DLe document en format XML
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Probe StB12.3 allowed direct detection of affected males, carrier females, normal transmitting males, as well as prenatal diagnosis. Comparison of our molecular data with our previous linkage data from 38 families indicates the effectiveness of direct DNA analysis. A total of 325 individuals were studied and no new mutation was found. All daughters of males with a premutation had a premutation. When the mother had a full mutation no children had a premutation. In premutated mothers, the size of the premutation seems to be a determining factor for the transition to the full mutation. All affected males had a full mutation or mosaicism and only 42% of the females with a full mutation were mentally impaired. Analysis of large families over 3 generations illustrated clearly the Sherman paradox. Furthermore, the analysis of these families is in reasonable agreement with the multiallelic model of Morton and Macpherson [Proc Natl Acad Sci USA 89:4215–4217, 1992]. Mosaic cases in the offspring of the mothers with a full mutation suggest a maternal germinal mosaicism. 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J. Med. Genet.</title></titleGroup></publicationMeta><publicationMeta level="part" position="40"><doi origin="wiley" registered="yes">10.1002/ajmg.v53:4</doi><numberingGroup><numbering type="journalVolume" number="53">53</numbering><numbering type="journalIssue">4</numbering></numberingGroup><coverDate startDate="1994-12-01">1 December 1994</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="13" status="forIssue"><doi origin="wiley" registered="yes">10.1002/ajmg.1320530413</doi><idGroup><id type="unit" value="AJMG1320530413"></id></idGroup><countGroup><count type="pageTotal" number="4"></count></countGroup><titleGroup><title type="articleCategory">Article</title><title type="tocHeading1">Articles</title></titleGroup><copyright ownership="publisher">Copyright © 1994 Wiley‐Liss, Inc., A Wiley Company</copyright><eventGroup><event type="manuscriptReceived" date="1993-07-30"></event><event type="manuscriptRevised" date="1994-05-31"></event><event type="firstOnline" date="2005-06-07"></event><event type="publishedOnlineFinalForm" date="2005-06-07"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.27 mode:FullText source:HeaderRef result:HeaderRef" date="2010-11-22"></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">370</numbering><numbering type="pageLast">373</numbering></numberingGroup><correspondenceTo>Unité de Génétique, CHU d'Angers, 49033 Angers Cedex, France</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:AJMG.AJMG1320530413.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="0"></count><count type="referenceTotal" number="17"></count></countGroup><titleGroup><title type="main" xml:lang="en">Molecular analysis of 53 fragile X families with the probe StB12.3</title><title type="short" xml:lang="en">Fragile X Syndrome</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><honorifics>Dr.</honorifics><givenNames>H.</givenNames><familyName>Puissant</familyName></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>M. C.</givenNames><familyName>Malinge</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>A.</givenNames><familyName>Larget‐Piet</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af2"><personName><givenNames>D.</givenNames><familyName>Martin</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af3"><personName><givenNames>P.</givenNames><familyName>Chauveau</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af4"><personName><givenNames>S.</givenNames><familyName>Odent</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af5"><personName><givenNames>G.</givenNames><familyName>Plessis</familyName></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Ph.</givenNames><familyName>Parent</familyName></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af4"><personName><givenNames>B.</givenNames><familyName>Lemarec</familyName></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af1"><personName><givenNames>L.</givenNames><familyName>Larget‐Piet</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="FR" type="organization"><unparsedAffiliation>Unité de Génétique CHU d'Angers, Angers, France</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="FR" type="organization"><unparsedAffiliation>Génétique médicate CHR Le Mans, Le Mans, France</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="FR" type="organization"><unparsedAffiliation>Génétique médicale CHR Le Havre, Le Havre, France</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="FR" type="organization"><unparsedAffiliation>Génétique médicale CHU Rennes, Rennes, France</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="FR" type="organization"><unparsedAffiliation>Génétique médicale CHU de Caen, Caen, France</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="FR" type="organization"><unparsedAffiliation>Génétique médicale CHU de Brest, Brest, France</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">fragile X syndrome</keyword><keyword xml:id="kwd2">mutation</keyword><keyword xml:id="kwd3">methylation</keyword><keyword xml:id="kwd4">direct DNA diagnosis</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Fifty‐three pedigrees with the fragile X syndrome have been studied for amplification of the CGG repeat sequence adjacent to the CpG island in the FMR1 gene. Probe StB12.3 allowed direct detection of affected males, carrier females, normal transmitting males, as well as prenatal diagnosis. Comparison of our molecular data with our previous linkage data from 38 families indicates the effectiveness of direct DNA analysis. A total of 325 individuals were studied and no new mutation was found. All daughters of males with a premutation had a premutation. When the mother had a full mutation no children had a premutation. In premutated mothers, the size of the premutation seems to be a determining factor for the transition to the full mutation. All affected males had a full mutation or mosaicism and only 42% of the females with a full mutation were mentally impaired. Analysis of large families over 3 generations illustrated clearly the Sherman paradox. Furthermore, the analysis of these families is in reasonable agreement with the multiallelic model of Morton and Macpherson [Proc Natl Acad Sci USA 89:4215–4217, 1992]. Mosaic cases in the offspring of the mothers with a full mutation suggest a maternal germinal mosaicism. Then an abnormal methylation and a somatic heterogeneity established in very early steps of embryogenesis could explain these Cases. © 1994 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Molecular analysis of 53 fragile X families with the probe StB12.3</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Fragile X Syndrome</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Molecular analysis of 53 fragile X families with the probe StB12.3</title></titleInfo><name type="personal"><namePart type="termsOfAddress">Dr.</namePart><namePart type="family">Puissant</namePart><affiliation>Unité de Génétique CHU d'Angers, Angers, France</affiliation><affiliation>Unité de Génétique, CHU d'Angers, 49033 Angers Cedex, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M. C.</namePart><namePart type="family">Malinge</namePart><affiliation>Unité de Génétique CHU d'Angers, Angers, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A.</namePart><namePart type="family">Larget‐Piet</namePart><affiliation>Unité de Génétique CHU d'Angers, Angers, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">D.</namePart><namePart type="family">Martin</namePart><affiliation>Génétique médicate CHR Le Mans, Le Mans, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">P.</namePart><namePart type="family">Chauveau</namePart><affiliation>Génétique médicale CHR Le Havre, Le Havre, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">S.</namePart><namePart type="family">Odent</namePart><affiliation>Génétique médicale CHU Rennes, Rennes, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">G.</namePart><namePart type="family">Plessis</namePart><affiliation>Génétique médicale CHU de Caen, Caen, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ph.</namePart><namePart type="family">Parent</namePart><affiliation>Génétique médicale CHU de Brest, Brest, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">B.</namePart><namePart type="family">Lemarec</namePart><affiliation>Génétique médicale CHU Rennes, Rennes, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">L.</namePart><namePart type="family">Larget‐Piet</namePart><affiliation>Unité de Génétique CHU d'Angers, Angers, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">1994-12-01</dateIssued><dateCaptured encoding="w3cdtf">1993-07-30</dateCaptured><copyrightDate encoding="w3cdtf">1994</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="references">17</extent></physicalDescription><abstract lang="en">Fifty‐three pedigrees with the fragile X syndrome have been studied for amplification of the CGG repeat sequence adjacent to the CpG island in the FMR1 gene. Probe StB12.3 allowed direct detection of affected males, carrier females, normal transmitting males, as well as prenatal diagnosis. Comparison of our molecular data with our previous linkage data from 38 families indicates the effectiveness of direct DNA analysis. A total of 325 individuals were studied and no new mutation was found. All daughters of males with a premutation had a premutation. When the mother had a full mutation no children had a premutation. In premutated mothers, the size of the premutation seems to be a determining factor for the transition to the full mutation. All affected males had a full mutation or mosaicism and only 42% of the females with a full mutation were mentally impaired. Analysis of large families over 3 generations illustrated clearly the Sherman paradox. Furthermore, the analysis of these families is in reasonable agreement with the multiallelic model of Morton and Macpherson [Proc Natl Acad Sci USA 89:4215–4217, 1992]. Mosaic cases in the offspring of the mothers with a full mutation suggest a maternal germinal mosaicism. Then an abnormal methylation and a somatic heterogeneity established in very early steps of embryogenesis could explain these Cases. © 1994 Wiley‐Liss, Inc.</abstract><subject lang="en"><genre>keywords</genre><topic>fragile X syndrome</topic><topic>mutation</topic><topic>methylation</topic><topic>direct DNA diagnosis</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>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>1994</date><detail type="volume"><caption>vol.</caption><number>53</number></detail><detail type="issue"><caption>no.</caption><number>4</number></detail><extent unit="pages"><start>370</start><end>373</end><total>4</total></extent></part></relatedItem><identifier type="istex">4C3C9AF2133C40D86B9FA2CCC37A61C8C26EF37D</identifier><identifier type="DOI">10.1002/ajmg.1320530413</identifier><identifier type="ArticleID">AJMG1320530413</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 1994 Wiley‐Liss, Inc., A Wiley Company</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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