Parathyroid hormone gene analysis in autosomal hypoparathyroidism using an intragenic tetranucleotide (AAAT) n polymorphism
Identifieur interne : 002524 ( Main/Exploration ); précédent : 002523; suivant : 002525Parathyroid hormone gene analysis in autosomal hypoparathyroidism using an intragenic tetranucleotide (AAAT) n polymorphism
Auteurs : B. Parkinson [Royaume-Uni] ; J. Shaw [Royaume-Uni] ; L. Himsworth [Royaume-Uni] ; V. Thakker [Royaume-Uni]Source :
- 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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Thakker</name></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><idno type="wicri:Area/Main/Curation">000E24</idno><idno type="wicri:Area/Main/Exploration">002524</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 wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Molecular Medicine, MRC Clinical Research Centre, Watford Road, HA1 3UJ, Harrow, Middlesex</wicri:regionArea><wicri:noRegion>Middlesex</wicri:noRegion></affiliation></author><author><name sortKey="Shaw, J" sort="Shaw, J" uniqKey="Shaw J" first="J." last="Shaw">J. Shaw</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Alder Hey Children's Hospital, LI2 2AP, Liverpool</wicri:regionArea><wicri:noRegion>Liverpool</wicri:noRegion></affiliation></author><author><name sortKey="Himsworth, L" sort="Himsworth, L" uniqKey="Himsworth L" first="L." last="Himsworth">L. Himsworth</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Medicine, University of Aberdeen, AB9 2ZD, Aberdeen</wicri:regionArea><wicri:noRegion>Aberdeen</wicri:noRegion></affiliation></author><author><name sortKey="Thakker, V" sort="Thakker, V" uniqKey="Thakker V" first="V." last="Thakker">V. Thakker</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Molecular Medicine, MRC Clinical Research Centre, Watford Road, HA1 3UJ, Harrow, Middlesex</wicri:regionArea><wicri:noRegion>Middlesex</wicri:noRegion></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><affiliations><list><country><li>Royaume-Uni</li></country></list><tree><country name="Royaume-Uni"><noRegion><name sortKey="Parkinson, B" sort="Parkinson, B" uniqKey="Parkinson B" first="B." last="Parkinson">B. Parkinson</name></noRegion><name sortKey="Himsworth, L" sort="Himsworth, L" uniqKey="Himsworth L" first="L." last="Himsworth">L. Himsworth</name><name sortKey="Shaw, J" sort="Shaw, J" uniqKey="Shaw J" first="J." last="Shaw">J. Shaw</name><name sortKey="Thakker, V" sort="Thakker, V" uniqKey="Thakker V" first="V." last="Thakker">V. Thakker</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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