Parathyroid hormone gene analysis in autosomal hypoparathyroidism using an intragenic tetranucleotide (AAAT) n polymorphism
Identifieur interne : 001012 ( Main/Corpus ); précédent : 001011; suivant : 001013Parathyroid hormone gene analysis in autosomal hypoparathyroidism using an intragenic tetranucleotide (AAAT) n polymorphism
Auteurs : B. Parkinson ; J. Shaw ; L. Himsworth ; V. ThakkerSource :
- Human Genetics [ 0340-6717 ] ; 1993-04-01.
Abstract
Abstract: We have identified a polymorphic tetranucleotide consisting of (AAAT) n within the first intron of the parathyroid hormone (PTH) gene, and have used this to investigate the segregation of the PTH gene and idiopathic hypoparathyroidism in 7 affected and 21 unaffected members from three families. An association between the PTH locus and autosomal dominant idiopathic hypoparathyroidism in one family was excluded by observing recombination between the two loci. In the remaining two families with autosomal recessive idiopathic hypoparathyroidism, the PTH locus was not similarly excluded. We had previously demonstrated a donor splice site mutation of the PTH gene in one of these families, and PTH gene abnormalities were therefore sought in the second of these families. DNA sequence analysis of the three exons, together with 4 exon-intron boundaries and the promoter region of the PTH gene revealed no abnormalities, thereby indicating molecular pathology at another locus. Thus, our analysis of idiopathic hypoparathyroidism reveals genetic heterogeneity for this disorder. In addition, our indentification of a microsatellite polymorphism of the PTH gene should help further segregation studies of this locus in families with parathyroid disorders.
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DOI: 10.1007/BF00218273
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<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Parathyroid hormone gene analysis in autosomal hypoparathyroidism using an intragenic tetranucleotide (AAAT) n polymorphism</title><author><name sortKey="Parkinson, B" sort="Parkinson, B" uniqKey="Parkinson B" first="B." last="Parkinson">B. Parkinson</name><affiliation><mods:affiliation>Molecular Medicine, MRC Clinical Research Centre, Watford Road, HA1 3UJ, Harrow, Middlesex, UK</mods:affiliation></affiliation></author><author><name sortKey="Shaw, J" sort="Shaw, J" uniqKey="Shaw J" first="J." last="Shaw">J. Shaw</name><affiliation><mods:affiliation>Alder Hey Children's Hospital, LI2 2AP, Liverpool, UK</mods:affiliation></affiliation></author><author><name sortKey="Himsworth, L" sort="Himsworth, L" uniqKey="Himsworth L" first="L." last="Himsworth">L. Himsworth</name><affiliation><mods:affiliation>Department of Medicine, University of Aberdeen, AB9 2ZD, Aberdeen, UK</mods:affiliation></affiliation></author><author><name sortKey="Thakker, V" sort="Thakker, V" uniqKey="Thakker V" first="V." last="Thakker">V. Thakker</name><affiliation><mods:affiliation>Molecular Medicine, MRC Clinical Research Centre, Watford Road, HA1 3UJ, Harrow, Middlesex, UK</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:A86F17AB05077C9A24862DC14F636D0CF63AD40E</idno><date when="1993" year="1993">1993</date><idno type="doi">10.1007/BF00218273</idno><idno type="url">https://api.istex.fr/document/A86F17AB05077C9A24862DC14F636D0CF63AD40E/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">001012</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Parathyroid hormone gene analysis in autosomal hypoparathyroidism using an intragenic tetranucleotide (AAAT) n polymorphism</title><author><name sortKey="Parkinson, B" sort="Parkinson, B" uniqKey="Parkinson B" first="B." last="Parkinson">B. Parkinson</name><affiliation><mods:affiliation>Molecular Medicine, MRC Clinical Research Centre, Watford Road, HA1 3UJ, Harrow, Middlesex, UK</mods:affiliation></affiliation></author><author><name sortKey="Shaw, J" sort="Shaw, J" uniqKey="Shaw J" first="J." last="Shaw">J. Shaw</name><affiliation><mods:affiliation>Alder Hey Children's Hospital, LI2 2AP, Liverpool, UK</mods:affiliation></affiliation></author><author><name sortKey="Himsworth, L" sort="Himsworth, L" uniqKey="Himsworth L" first="L." last="Himsworth">L. Himsworth</name><affiliation><mods:affiliation>Department of Medicine, University of Aberdeen, AB9 2ZD, Aberdeen, UK</mods:affiliation></affiliation></author><author><name sortKey="Thakker, V" sort="Thakker, V" uniqKey="Thakker V" first="V." last="Thakker">V. Thakker</name><affiliation><mods:affiliation>Molecular Medicine, MRC Clinical Research Centre, Watford Road, HA1 3UJ, Harrow, Middlesex, UK</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Genetics</title><title level="j" type="abbrev">Hum Genet</title><idno type="ISSN">0340-6717</idno><idno type="eISSN">1432-1203</idno><imprint><publisher>Springer-Verlag</publisher><pubPlace>Berlin/Heidelberg</pubPlace><date type="published" when="1993-04-01">1993-04-01</date><biblScope unit="volume">91</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="281">281</biblScope><biblScope unit="page" to="284">284</biblScope></imprint><idno type="ISSN">0340-6717</idno></series><idno type="istex">A86F17AB05077C9A24862DC14F636D0CF63AD40E</idno><idno type="DOI">10.1007/BF00218273</idno><idno type="ArticleID">Art18</idno><idno type="ArticleID">BF00218273</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0340-6717</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Abstract: We have identified a polymorphic tetranucleotide consisting of (AAAT) n within the first intron of the parathyroid hormone (PTH) gene, and have used this to investigate the segregation of the PTH gene and idiopathic hypoparathyroidism in 7 affected and 21 unaffected members from three families. An association between the PTH locus and autosomal dominant idiopathic hypoparathyroidism in one family was excluded by observing recombination between the two loci. In the remaining two families with autosomal recessive idiopathic hypoparathyroidism, the PTH locus was not similarly excluded. We had previously demonstrated a donor splice site mutation of the PTH gene in one of these families, and PTH gene abnormalities were therefore sought in the second of these families. DNA sequence analysis of the three exons, together with 4 exon-intron boundaries and the promoter region of the PTH gene revealed no abnormalities, thereby indicating molecular pathology at another locus. Thus, our analysis of idiopathic hypoparathyroidism reveals genetic heterogeneity for this disorder. In addition, our indentification of a microsatellite polymorphism of the PTH gene should help further segregation studies of this locus in families with parathyroid disorders.</div></front></TEI><istex><corpusName>springer</corpusName><author><json:item><name>D. B. Parkinson</name><affiliations><json:string>Molecular Medicine, MRC Clinical Research Centre, Watford Road, HA1 3UJ, Harrow, Middlesex, UK</json:string></affiliations></json:item><json:item><name>N. J. Shaw</name><affiliations><json:string>Alder Hey Children's Hospital, LI2 2AP, Liverpool, UK</json:string></affiliations></json:item><json:item><name>R. L. Himsworth</name><affiliations><json:string>Department of Medicine, University of Aberdeen, AB9 2ZD, Aberdeen, UK</json:string></affiliations></json:item><json:item><name>R. V. Thakker</name><affiliations><json:string>Molecular Medicine, MRC Clinical Research Centre, Watford Road, HA1 3UJ, Harrow, Middlesex, UK</json:string></affiliations></json:item></author><articleId><json:string>Art18</json:string><json:string>BF00218273</json:string></articleId><language><json:string>eng</json:string></language><abstract>Abstract: We have identified a polymorphic tetranucleotide consisting of (AAAT) n within the first intron of the parathyroid hormone (PTH) gene, and have used this to investigate the segregation of the PTH gene and idiopathic hypoparathyroidism in 7 affected and 21 unaffected members from three families. An association between the PTH locus and autosomal dominant idiopathic hypoparathyroidism in one family was excluded by observing recombination between the two loci. In the remaining two families with autosomal recessive idiopathic hypoparathyroidism, the PTH locus was not similarly excluded. We had previously demonstrated a donor splice site mutation of the PTH gene in one of these families, and PTH gene abnormalities were therefore sought in the second of these families. DNA sequence analysis of the three exons, together with 4 exon-intron boundaries and the promoter region of the PTH gene revealed no abnormalities, thereby indicating molecular pathology at another locus. Thus, our analysis of idiopathic hypoparathyroidism reveals genetic heterogeneity for this disorder. 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from="281">281</biblScope><biblScope unit="page" to="284">284</biblScope></imprint></monogr><idno type="istex">A86F17AB05077C9A24862DC14F636D0CF63AD40E</idno><idno type="DOI">10.1007/BF00218273</idno><idno type="ArticleID">Art18</idno><idno type="ArticleID">BF00218273</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>1992-07-27</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Abstract: We have identified a polymorphic tetranucleotide consisting of (AAAT) n within the first intron of the parathyroid hormone (PTH) gene, and have used this to investigate the segregation of the PTH gene and idiopathic hypoparathyroidism in 7 affected and 21 unaffected members from three families. An association between the PTH locus and autosomal dominant idiopathic hypoparathyroidism in one family was excluded by observing recombination between the two loci. In the remaining two families with autosomal recessive idiopathic hypoparathyroidism, the PTH locus was not similarly excluded. We had previously demonstrated a donor splice site mutation of the PTH gene in one of these families, and PTH gene abnormalities were therefore sought in the second of these families. DNA sequence analysis of the three exons, together with 4 exon-intron boundaries and the promoter region of the PTH gene revealed no abnormalities, thereby indicating molecular pathology at another locus. Thus, our analysis of idiopathic hypoparathyroidism reveals genetic heterogeneity for this disorder. In addition, our indentification of a microsatellite polymorphism of the PTH gene should help further segregation studies of this locus in families with parathyroid disorders.</p></abstract><textClass><keywords scheme="Journal Subject"><list><head>Biomedicine</head><item><term>Human Genetics</term></item><item><term>Molecular Medicine</term></item><item><term>Internal Medicine</term></item><item><term>Metabolic Diseases</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="1992-07-27">Created</change><change when="1993-04-01">Published</change><change xml:id="refBibs-istex" who="#ISTEX-API" when="2016-3-2">References added</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/A86F17AB05077C9A24862DC14F636D0CF63AD40E/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Springer, Publisher found" 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autosomal hypoparathyroidism using an intragenic tetranucleotide (AAAT)<Subscript><Emphasis Type="Italic">n</Emphasis></Subscript> polymorphism</ArticleTitle><ArticleCategory>Short Communications</ArticleCategory><ArticleFirstPage>281</ArticleFirstPage><ArticleLastPage>284</ArticleLastPage><ArticleHistory><RegistrationDate><Year>2004</Year><Month>7</Month><Day>20</Day></RegistrationDate><Received><Year>1992</Year><Month>7</Month><Day>27</Day></Received><Revised><Year>1992</Year><Month>10</Month><Day>10</Day></Revised></ArticleHistory><ArticleCopyright><CopyrightHolderName>Springer-Verlag</CopyrightHolderName><CopyrightYear>1993</CopyrightYear></ArticleCopyright><ArticleGrants Type="Regular"><MetadataGrant Grant="OpenAccess"></MetadataGrant><AbstractGrant Grant="OpenAccess"></AbstractGrant><BodyPDFGrant Grant="Restricted"></BodyPDFGrant><BodyHTMLGrant Grant="Restricted"></BodyHTMLGrant><BibliographyGrant Grant="Restricted"></BibliographyGrant><ESMGrant Grant="Restricted"></ESMGrant></ArticleGrants><ArticleContext><JournalID>439</JournalID><VolumeIDStart>91</VolumeIDStart><VolumeIDEnd>91</VolumeIDEnd><IssueIDStart>3</IssueIDStart><IssueIDEnd>3</IssueIDEnd></ArticleContext></ArticleInfo><ArticleHeader><AuthorGroup><Author AffiliationIDS="Aff1"><AuthorName DisplayOrder="Western"><GivenName>D.</GivenName><GivenName>B.</GivenName><FamilyName>Parkinson</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff2"><AuthorName DisplayOrder="Western"><GivenName>N.</GivenName><GivenName>J.</GivenName><FamilyName>Shaw</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff3"><AuthorName DisplayOrder="Western"><GivenName>R.</GivenName><GivenName>L.</GivenName><FamilyName>Himsworth</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff1" PresentAffiliationID="Aff4"><AuthorName DisplayOrder="Western"><GivenName>R.</GivenName><GivenName>V.</GivenName><FamilyName>Thakker</FamilyName></AuthorName></Author><Affiliation ID="Aff1"><OrgName>Molecular Medicine, MRC Clinical Research Centre</OrgName><OrgAddress><Street>Watford Road</Street><Postcode>HA1 3UJ</Postcode><City>Harrow</City><State>Middlesex</State><Country>UK</Country></OrgAddress></Affiliation><Affiliation ID="Aff2"><OrgName>Alder Hey Children's Hospital</OrgName><OrgAddress><Postcode>LI2 2AP</Postcode><City>Liverpool</City><Country>UK</Country></OrgAddress></Affiliation><Affiliation ID="Aff3"><OrgDivision>Department of Medicine</OrgDivision><OrgName>University of Aberdeen</OrgName><OrgAddress><Postcode>AB9 2ZD</Postcode><City>Aberdeen</City><Country>UK</Country></OrgAddress></Affiliation><Affiliation ID="Aff4"><OrgName>MRC Molecular Medicine Group, Royal Postgraduate Medical School</OrgName><OrgAddress><Street>Du Cane Road</Street><Postcode>W12 ONN</Postcode><City>London</City><Country>UK</Country></OrgAddress></Affiliation></AuthorGroup><Abstract ID="Abs1" Language="En"><Heading>Abstract</Heading><Para>We have identified a polymorphic tetranucleotide consisting of (AAAT)<Subscript><Emphasis Type="Italic">n</Emphasis></Subscript> within the first intron of the parathyroid hormone (PTH) gene, and have used this to investigate the segregation of the PTH gene and idiopathic hypoparathyroidism in 7 affected and 21 unaffected members from three families. An association between the PTH locus and autosomal dominant idiopathic hypoparathyroidism in one family was excluded by observing recombination between the two loci. In the remaining two families with autosomal recessive idiopathic hypoparathyroidism, the PTH locus was not similarly excluded. We had previously demonstrated a donor splice site mutation of the PTH gene in one of these families, and PTH gene abnormalities were therefore sought in the second of these families. DNA sequence analysis of the three exons, together with 4 exon-intron boundaries and the promoter region of the PTH gene revealed no abnormalities, thereby indicating molecular pathology at another locus. Thus, our analysis of idiopathic hypoparathyroidism reveals genetic heterogeneity for this disorder. In addition, our indentification of a microsatellite polymorphism of the PTH gene should help further segregation studies of this locus in families with parathyroid disorders.</Para></Abstract></ArticleHeader><NoBody></NoBody></Article></Issue></Volume></Journal></Publisher></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Parathyroid hormone gene analysis in autosomal hypoparathyroidism using an intragenic tetranucleotide (AAAT) n polymorphism</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Parathyroid hormone gene analysis in autosomal hypoparathyroidism using an intragenic tetranucleotide (AAAT) n polymorphism</title></titleInfo><name type="personal"><namePart type="given">D.</namePart><namePart type="given">B.</namePart><namePart type="family">Parkinson</namePart><affiliation>Molecular Medicine, MRC Clinical Research Centre, Watford Road, HA1 3UJ, Harrow, Middlesex, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">N.</namePart><namePart type="given">J.</namePart><namePart type="family">Shaw</namePart><affiliation>Alder Hey Children's Hospital, LI2 2AP, Liverpool, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">R.</namePart><namePart type="given">L.</namePart><namePart type="family">Himsworth</namePart><affiliation>Department of Medicine, University of Aberdeen, AB9 2ZD, Aberdeen, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">R.</namePart><namePart type="given">V.</namePart><namePart type="family">Thakker</namePart><affiliation>Molecular Medicine, MRC Clinical Research Centre, Watford Road, HA1 3UJ, Harrow, Middlesex, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="brief communication" displayLabel="BriefCommunication"></genre><originInfo><publisher>Springer-Verlag</publisher><place><placeTerm type="text">Berlin/Heidelberg</placeTerm></place><dateCreated encoding="w3cdtf">1992-07-27</dateCreated><dateIssued encoding="w3cdtf">1993-04-01</dateIssued><copyrightDate encoding="w3cdtf">1993</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract lang="en">Abstract: We have identified a polymorphic tetranucleotide consisting of (AAAT) n within the first intron of the parathyroid hormone (PTH) gene, and have used this to investigate the segregation of the PTH gene and idiopathic hypoparathyroidism in 7 affected and 21 unaffected members from three families. An association between the PTH locus and autosomal dominant idiopathic hypoparathyroidism in one family was excluded by observing recombination between the two loci. In the remaining two families with autosomal recessive idiopathic hypoparathyroidism, the PTH locus was not similarly excluded. We had previously demonstrated a donor splice site mutation of the PTH gene in one of these families, and PTH gene abnormalities were therefore sought in the second of these families. DNA sequence analysis of the three exons, together with 4 exon-intron boundaries and the promoter region of the PTH gene revealed no abnormalities, thereby indicating molecular pathology at another locus. Thus, our analysis of idiopathic hypoparathyroidism reveals genetic heterogeneity for this disorder. In addition, our indentification of a microsatellite polymorphism of the PTH gene should help further segregation studies of this locus in families with parathyroid disorders.</abstract><note>Short Communications</note><relatedItem type="host"><titleInfo><title>Human Genetics</title></titleInfo><titleInfo type="abbreviated"><title>Hum Genet</title></titleInfo><genre type="Journal" displayLabel="Archive Journal"></genre><originInfo><dateIssued encoding="w3cdtf">1993-04-01</dateIssued><copyrightDate encoding="w3cdtf">1993</copyrightDate></originInfo><subject><genre>Biomedicine</genre><topic>Human Genetics</topic><topic>Molecular Medicine</topic><topic>Internal Medicine</topic><topic>Metabolic Diseases</topic></subject><identifier type="ISSN">0340-6717</identifier><identifier type="eISSN">1432-1203</identifier><identifier type="JournalID">439</identifier><identifier type="IssueArticleCount">28</identifier><identifier type="VolumeIssueCount">6</identifier><part><date>1993</date><detail type="volume"><number>91</number><caption>vol.</caption></detail><detail type="issue"><number>3</number><caption>no.</caption></detail><extent unit="pages"><start>281</start><end>284</end></extent></part><recordInfo><recordOrigin>Springer-Verlag, 1993</recordOrigin></recordInfo></relatedItem><identifier type="istex">A86F17AB05077C9A24862DC14F636D0CF63AD40E</identifier><identifier type="DOI">10.1007/BF00218273</identifier><identifier type="ArticleID">Art18</identifier><identifier type="ArticleID">BF00218273</identifier><accessCondition type="use and reproduction" contentType="copyright">Springer-Verlag</accessCondition><recordInfo><recordContentSource>SPRINGER</recordContentSource><recordOrigin>Springer-Verlag, 1993</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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