Genetic homogeneity of cartilage-hair hypoplasia
Identifieur interne : 00D503 ( Main/Exploration ); précédent : 00D502; suivant : 00D504Genetic homogeneity of cartilage-hair hypoplasia
Auteurs : Tuija Sulisalo [Finlande] ; Ineke Van Der Burgt [Pays-Bas] ; David L. Rimoin [États-Unis] ; Jaques Bonaventure [France] ; David Sillence [Australie] ; John B. Campbell [États-Unis] ; David Chitayat [Canada] ; Charles I. Scott [États-Unis] ; Albert De La Chapelle [Finlande] ; Pertti Sistonen [Finlande] ; Ilkka Kaitila [Finlande]Source :
- Human Genetics [ 0340-6717 ] ; 1995-02-01.
Descripteurs français
- Wicri :
- topic : Génétique.
English descriptors
- KwdEn :
- Allele, Amish, Amish families, Burgt, Chapelle, Chromosome, Closest marker loci, Finn, Finnish, Finnish families, Gene frequencies, Genet, Genetic homogeneity, Genetics, Helsinki, High resolution mapping, Hypoplasia, Hypoplasia gene, Kaitila, Kaitila department, Linkage, Linkage analysis, Locus, Mckusick, Medical genetics, Metaphyseal, Microsatellite, Microsatellite markers, Mutation, Nature genet, Order amish, Pleiotropic features, Poor hair growth, Short stature, Sistonen, Sporadic families, Sulisalo, Various populations.
- Teeft :
- Allele, Amish, Amish families, Burgt, Chapelle, Chromosome, Closest marker loci, Finn, Finnish, Finnish families, Gene frequencies, Genet, Genetic homogeneity, Genetics, Helsinki, High resolution mapping, Hypoplasia, Hypoplasia gene, Kaitila, Kaitila department, Linkage, Linkage analysis, Locus, Mckusick, Medical genetics, Metaphyseal, Microsatellite, Microsatellite markers, Mutation, Nature genet, Order amish, Pleiotropic features, Poor hair growth, Short stature, Sistonen, Sporadic families, Sulisalo, Various populations.
Abstract
Abstract: Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by short stature and hypoplasia of the hair. Associated pleiotropic features include deficient erythrogenesis, impaired T-cell mediated immunity, Hirschsprung's disease, and an increased risk of malignancies. CHH is most prevalent among the Old Order Amish in the United States and among the Finns, but sporadic families have been described among many other populations. We have previously mapped the gene for CHH to the short arm of chromosome 9 in Finnish and Amish families. The CHH locus resides close to D9S163 within an interval of 1.5 cM flanked by D9S165 and D9S50. In order to investigate the genetic homogeneity of CHH in various populations, we studied nine families with no genealogical connections to either Amish or Finns. No recombinants were detected between the CHH gene and any of the three closest marker loci studied, suggesting that CHH in these families results from mutation(s) at the same locus as in the Amish and Finnish families.
Url:
DOI: 10.1007/BF00209394
Affiliations:
- Australie, Canada, Finlande, France, Pays-Bas, États-Unis
- Californie, Delaware, Gueldre, Uusimaa, Île-de-France
- Helsinki, Los Angeles, Nimègue, Paris
- Université d'Helsinki
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Le document en format XML
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Scott</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Alfred I. duPont Institute, Delaware</wicri:regionArea><placeName><region type="state">Delaware</region></placeName></affiliation></author><author><name sortKey="De La Chapelle, Albert" sort="De La Chapelle, Albert" uniqKey="De La Chapelle A" first="Albert" last="De La Chapelle">Albert De La Chapelle</name><affiliation wicri:level="4"><country xml:lang="fr">Finlande</country><wicri:regionArea>Department of Medical Genetics, University of Helsinki, P.O. Box 21, FIN-00014, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation></author><author><name sortKey="Sistonen, Pertti" sort="Sistonen, Pertti" uniqKey="Sistonen P" first="Pertti" last="Sistonen">Pertti Sistonen</name><affiliation wicri:level="1"><country xml:lang="fr">Finlande</country><wicri:regionArea>Finnish Red Cross Blood Transfusion Service, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</wicri:noRegion></affiliation></author><author><name sortKey="Kaitila, Ilkka" sort="Kaitila, Ilkka" uniqKey="Kaitila I" first="Ilkka" last="Kaitila">Ilkka Kaitila</name><affiliation wicri:level="4"><country xml:lang="fr">Finlande</country><wicri:regionArea>Department of Medical Genetics, University of Helsinki, P.O. Box 21, FIN-00014, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Finlande</country><wicri:regionArea>Department of Medical Genetics, Helsinki University Central Hospital, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</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="1995-02-01">1995-02-01</date><biblScope unit="volume">95</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="157">157</biblScope><biblScope unit="page" to="160">160</biblScope></imprint><idno type="ISSN">0340-6717</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0340-6717</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Allele</term><term>Amish</term><term>Amish families</term><term>Burgt</term><term>Chapelle</term><term>Chromosome</term><term>Closest marker loci</term><term>Finn</term><term>Finnish</term><term>Finnish families</term><term>Gene frequencies</term><term>Genet</term><term>Genetic homogeneity</term><term>Genetics</term><term>Helsinki</term><term>High resolution mapping</term><term>Hypoplasia</term><term>Hypoplasia gene</term><term>Kaitila</term><term>Kaitila department</term><term>Linkage</term><term>Linkage analysis</term><term>Locus</term><term>Mckusick</term><term>Medical genetics</term><term>Metaphyseal</term><term>Microsatellite</term><term>Microsatellite markers</term><term>Mutation</term><term>Nature genet</term><term>Order amish</term><term>Pleiotropic features</term><term>Poor hair growth</term><term>Short stature</term><term>Sistonen</term><term>Sporadic families</term><term>Sulisalo</term><term>Various populations</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Allele</term><term>Amish</term><term>Amish families</term><term>Burgt</term><term>Chapelle</term><term>Chromosome</term><term>Closest marker loci</term><term>Finn</term><term>Finnish</term><term>Finnish families</term><term>Gene frequencies</term><term>Genet</term><term>Genetic homogeneity</term><term>Genetics</term><term>Helsinki</term><term>High resolution mapping</term><term>Hypoplasia</term><term>Hypoplasia gene</term><term>Kaitila</term><term>Kaitila department</term><term>Linkage</term><term>Linkage analysis</term><term>Locus</term><term>Mckusick</term><term>Medical genetics</term><term>Metaphyseal</term><term>Microsatellite</term><term>Microsatellite markers</term><term>Mutation</term><term>Nature genet</term><term>Order amish</term><term>Pleiotropic features</term><term>Poor hair growth</term><term>Short stature</term><term>Sistonen</term><term>Sporadic families</term><term>Sulisalo</term><term>Various populations</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Abstract: Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by short stature and hypoplasia of the hair. Associated pleiotropic features include deficient erythrogenesis, impaired T-cell mediated immunity, Hirschsprung's disease, and an increased risk of malignancies. CHH is most prevalent among the Old Order Amish in the United States and among the Finns, but sporadic families have been described among many other populations. We have previously mapped the gene for CHH to the short arm of chromosome 9 in Finnish and Amish families. The CHH locus resides close to D9S163 within an interval of 1.5 cM flanked by D9S165 and D9S50. In order to investigate the genetic homogeneity of CHH in various populations, we studied nine families with no genealogical connections to either Amish or Finns. No recombinants were detected between the CHH gene and any of the three closest marker loci studied, suggesting that CHH in these families results from mutation(s) at the same locus as in the Amish and Finnish families.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Canada</li><li>Finlande</li><li>France</li><li>Pays-Bas</li><li>États-Unis</li></country><region><li>Californie</li><li>Delaware</li><li>Gueldre</li><li>Uusimaa</li><li>Île-de-France</li></region><settlement><li>Helsinki</li><li>Los Angeles</li><li>Nimègue</li><li>Paris</li></settlement><orgName><li>Université d'Helsinki</li></orgName></list><tree><country name="Finlande"><region name="Uusimaa"><name sortKey="Sulisalo, Tuija" sort="Sulisalo, Tuija" uniqKey="Sulisalo T" first="Tuija" last="Sulisalo">Tuija Sulisalo</name></region><name sortKey="De La Chapelle, Albert" sort="De La Chapelle, Albert" uniqKey="De La Chapelle A" first="Albert" last="De La Chapelle">Albert De La Chapelle</name><name sortKey="Kaitila, Ilkka" sort="Kaitila, Ilkka" uniqKey="Kaitila I" first="Ilkka" last="Kaitila">Ilkka Kaitila</name><name sortKey="Kaitila, Ilkka" sort="Kaitila, Ilkka" uniqKey="Kaitila I" first="Ilkka" last="Kaitila">Ilkka Kaitila</name><name sortKey="Sistonen, Pertti" sort="Sistonen, Pertti" uniqKey="Sistonen P" first="Pertti" last="Sistonen">Pertti Sistonen</name></country><country name="Pays-Bas"><region name="Gueldre"><name sortKey="Van Der Burgt, Ineke" sort="Van Der Burgt, Ineke" uniqKey="Van Der Burgt I" first="Ineke" last="Van Der Burgt">Ineke Van Der Burgt</name></region></country><country name="États-Unis"><region name="Californie"><name sortKey="Rimoin, David L" sort="Rimoin, David L" uniqKey="Rimoin D" first="David L." last="Rimoin">David L. Rimoin</name></region><name sortKey="Campbell, John B" sort="Campbell, John B" uniqKey="Campbell J" first="John B." last="Campbell">John B. Campbell</name><name sortKey="Scott, Charles I" sort="Scott, Charles I" uniqKey="Scott C" first="Charles I." last="Scott">Charles I. Scott</name></country><country name="France"><region name="Île-de-France"><name sortKey="Bonaventure, Jaques" sort="Bonaventure, Jaques" uniqKey="Bonaventure J" first="Jaques" last="Bonaventure">Jaques Bonaventure</name></region></country><country name="Australie"><noRegion><name sortKey="Sillence, David" sort="Sillence, David" uniqKey="Sillence D" first="David" last="Sillence">David Sillence</name></noRegion></country><country name="Canada"><noRegion><name sortKey="Chitayat, David" sort="Chitayat, David" uniqKey="Chitayat D" first="David" last="Chitayat">David Chitayat</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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