Mapping of the Locus for Cholestasis-Lymphedema Syndrome (Aagenaes Syndrome) to a 6.6-cM Interval on Chromosome 15q
Identifieur interne : 00A609 ( Main/Exploration ); précédent : 00A608; suivant : 00A610Mapping of the Locus for Cholestasis-Lymphedema Syndrome (Aagenaes Syndrome) to a 6.6-cM Interval on Chromosome 15q
Auteurs : Laura N. Bull [États-Unis] ; Erin Roche [États-Unis] ; Eyun J. Song [États-Unis] ; Jan Pedersen [Norvège] ; A. S. Knisely [Norvège] ; C. B. Van Der Hagen [Norvège] ; Kristin Eiklid [Norvège] ; Ystein Aagenaes [États-Unis] ; Nelson B. Freimer [États-Unis]Source :
- The American Journal of Human Genetics [ 0002-9297 ] ; 2000.
Descripteurs français
- KwdFr :
- Allèles, Cartographie chromosomique, Cholestase (génétique), Chromosomes humains de la paire 15 (génétique), Consanguinité, Femelle, Gènes récessifs (génétique), Haplotypes (génétique), Homozygote, Humains, Lymphoedème (génétique), Mâle, Norvège, Pedigree, Répétitions microsatellites (génétique), Syndrome.
- MESH :
- Pascal (Inist)
- Aagenaes syndrome, Allèle, Allèles, Association morbide, Cartographie chromosomique, Cholostase, Chromosome D15, Consanguinité, Déterminisme génétique, Etude cas, Etude familiale, Femelle, Gène, Génome, Haplotype, Homme, Homozygote, Homozygotie, Humains, Locus, Lymphoedème, Mâle, Norvège, Pathogénie, Pedigree, Syndrome.
- Wicri :
English descriptors
- KwdEn :
- Aagenaes syndrome, Allele, Alleles, Case study, Cholestasis (genetics), Cholostasis, Chromosome D15, Chromosome Mapping, Chromosomes, Human, Pair 15 (genetics), Concomitant disease, Consanguinity, Family study, Female, Gene, Genes, Recessive (genetics), Genetic determinism, Genome, Haplotype, Haplotypes (genetics), Homozygosity, Homozygote, Human, Humans, Locus, Lymphedema, Lymphedema (genetics), Male, Microsatellite Repeats (genetics), Norway, Pathogenesis, Pedigree, Syndrome.
- MESH :
- geographic : Norway.
- genetics : Cholestasis, Chromosomes, Human, Pair 15, Genes, Recessive, Haplotypes, Lymphedema, Microsatellite Repeats.
- Alleles, Chromosome Mapping, Consanguinity, Female, Homozygote, Humans, Male, Pedigree, Syndrome.
Abstract
Patients with cholestasis-lymphedema syndrome (CLS) suffer severe neonatal cholestasis that usually lessens during early childhood and becomes episodic; they also develop chronic severe lymphedema. The genetic cause of CLS is unknown. We performed a genome screen, using DNA from eight Norwegian patients with CLS and from seven unaffected relatives, all from an extended pedigree. Regions potentially shared identical by descent in patients were further characterized in a larger set of Norwegian patients. The patients manifest extensive allele and haplotype sharing over the 6.6-cM D15S979–D15S652 region: 30 (83.3%) of 36 chromosomes of affected individuals carry a six-marker haplotype not found on any of the 32 nontransmitted parental chromosomes. All Norwegian patients with CLS are likely homozygous for the same disease mutation, inherited from a shared ancestor.
Url:
- https://api.istex.fr/document/72DFBB19F557199EEA146FFF7367FA18FC979C89/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1287903
DOI: 10.1086/303080
Affiliations:
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Le document en format XML
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Bull</name><affiliation wicri:level="1"><country wicri:rule="url">États-Unis</country></affiliation><affiliation wicri:level="3"><country>États-Unis</country><placeName><settlement type="city">San Francisco</settlement><region type="state">Californie</region></placeName><wicri:orgArea>Liver Center Laboratory, San Francisco General Hospital, and Department of Medicine, University of California San Francisco</wicri:orgArea></affiliation></author><author><name sortKey="Roche, Erin" sort="Roche, Erin" uniqKey="Roche E" first="Erin" last="Roche">Erin Roche</name><affiliation wicri:level="3"><country>États-Unis</country><placeName><settlement type="city">San Francisco</settlement><region type="state">Californie</region></placeName><wicri:orgArea>Neurogenetics Laboratory, Center for Neurobiology and Psychiatry, Department of Psychiatry and Liver Center, University of California San Francisco</wicri:orgArea></affiliation></author><author><name sortKey="Song, Eyun J" sort="Song, Eyun J" uniqKey="Song E" first="Eyun J." last="Song">Eyun J. Song</name><affiliation wicri:level="3"><country>États-Unis</country><placeName><settlement type="city">San Francisco</settlement><region type="state">Californie</region></placeName><wicri:orgArea>Liver Center Laboratory, San Francisco General Hospital, and Department of Medicine, University of California San Francisco</wicri:orgArea></affiliation></author><author><name sortKey="Pedersen, Jan" sort="Pedersen, Jan" uniqKey="Pedersen J" first="Jan" last="Pedersen">Jan Pedersen</name><affiliation wicri:level="3"><country>Norvège</country><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName><wicri:orgArea>Department of Medical Genetics, Ullevål University Hospital, University of Oslo</wicri:orgArea></affiliation></author><author><name sortKey="Knisely, A S" sort="Knisely, A S" uniqKey="Knisely A" first="A. S." last="Knisely">A. S. Knisely</name><affiliation wicri:level="3"><country>Norvège</country><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName><wicri:orgArea>Department of Pediatrics, Ullevål University Hospital, University of Oslo</wicri:orgArea></affiliation></author><author><name sortKey="Van Der Hagen, C B" sort="Van Der Hagen, C B" uniqKey="Van Der Hagen C" first="C. B." last="Van Der Hagen">C. B. Van Der Hagen</name><affiliation wicri:level="3"><country>Norvège</country><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName><wicri:orgArea>Department of Medical Genetics, Ullevål University Hospital, University of Oslo</wicri:orgArea></affiliation></author><author><name sortKey="Eiklid, Kristin" sort="Eiklid, Kristin" uniqKey="Eiklid K" first="Kristin" last="Eiklid">Kristin Eiklid</name><affiliation wicri:level="3"><country>Norvège</country><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName><wicri:orgArea>Department of Medical Genetics, Ullevål University Hospital, University of Oslo</wicri:orgArea></affiliation></author><author><name sortKey="Aagenaes, Ystein" sort="Aagenaes, Ystein" uniqKey="Aagenaes " first=" Ystein" last="Aagenaes"> Ystein Aagenaes</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Pathology, University of Texas Medical Branch, Galveston</wicri:cityArea></affiliation></author><author><name sortKey="Freimer, Nelson B" sort="Freimer, Nelson B" uniqKey="Freimer N" first="Nelson B." last="Freimer">Nelson B. Freimer</name><affiliation wicri:level="3"><country>États-Unis</country><placeName><settlement type="city">San Francisco</settlement><region type="state">Californie</region></placeName><wicri:orgArea>Neurogenetics Laboratory, Center for Neurobiology and Psychiatry, Department of Psychiatry and Liver Center, University of California San Francisco</wicri:orgArea></affiliation></author></analytic><monogr></monogr><series><title level="j">The American Journal of Human Genetics</title><title level="j" type="abbrev">AJHG</title><idno type="ISSN">0002-9297</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="2000">2000</date><biblScope unit="volume">67</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="994">994</biblScope><biblScope unit="page" to="999">999</biblScope></imprint><idno type="ISSN">0002-9297</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0002-9297</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aagenaes syndrome</term><term>Allele</term><term>Alleles</term><term>Case study</term><term>Cholestasis (genetics)</term><term>Cholostasis</term><term>Chromosome D15</term><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 15 (genetics)</term><term>Concomitant disease</term><term>Consanguinity</term><term>Family study</term><term>Female</term><term>Gene</term><term>Genes, Recessive (genetics)</term><term>Genetic determinism</term><term>Genome</term><term>Haplotype</term><term>Haplotypes (genetics)</term><term>Homozygosity</term><term>Homozygote</term><term>Human</term><term>Humans</term><term>Locus</term><term>Lymphedema</term><term>Lymphedema (genetics)</term><term>Male</term><term>Microsatellite Repeats (genetics)</term><term>Norway</term><term>Pathogenesis</term><term>Pedigree</term><term>Syndrome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Allèles</term><term>Cartographie chromosomique</term><term>Cholestase (génétique)</term><term>Chromosomes humains de la paire 15 (génétique)</term><term>Consanguinité</term><term>Femelle</term><term>Gènes récessifs (génétique)</term><term>Haplotypes (génétique)</term><term>Homozygote</term><term>Humains</term><term>Lymphoedème (génétique)</term><term>Mâle</term><term>Norvège</term><term>Pedigree</term><term>Répétitions microsatellites (génétique)</term><term>Syndrome</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Norway</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cholestasis</term><term>Chromosomes, Human, Pair 15</term><term>Genes, Recessive</term><term>Haplotypes</term><term>Lymphedema</term><term>Microsatellite Repeats</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Cholestase</term><term>Chromosomes humains de la paire 15</term><term>Gènes récessifs</term><term>Haplotypes</term><term>Lymphoedème</term><term>Répétitions microsatellites</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Alleles</term><term>Chromosome Mapping</term><term>Consanguinity</term><term>Female</term><term>Homozygote</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Syndrome</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Aagenaes syndrome</term><term>Allèle</term><term>Allèles</term><term>Association morbide</term><term>Cartographie chromosomique</term><term>Cholostase</term><term>Chromosome D15</term><term>Consanguinité</term><term>Déterminisme génétique</term><term>Etude cas</term><term>Etude familiale</term><term>Femelle</term><term>Gène</term><term>Génome</term><term>Haplotype</term><term>Homme</term><term>Homozygote</term><term>Homozygotie</term><term>Humains</term><term>Locus</term><term>Lymphoedème</term><term>Mâle</term><term>Norvège</term><term>Pathogénie</term><term>Pedigree</term><term>Syndrome</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Norvège</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">Patients with cholestasis-lymphedema syndrome (CLS) suffer severe neonatal cholestasis that usually lessens during early childhood and becomes episodic; they also develop chronic severe lymphedema. The genetic cause of CLS is unknown. We performed a genome screen, using DNA from eight Norwegian patients with CLS and from seven unaffected relatives, all from an extended pedigree. Regions potentially shared identical by descent in patients were further characterized in a larger set of Norwegian patients. The patients manifest extensive allele and haplotype sharing over the 6.6-cM D15S979–D15S652 region: 30 (83.3%) of 36 chromosomes of affected individuals carry a six-marker haplotype not found on any of the 32 nontransmitted parental chromosomes. All Norwegian patients with CLS are likely homozygous for the same disease mutation, inherited from a shared ancestor.</div></front></TEI><affiliations><list><country><li>Norvège</li><li>États-Unis</li></country><region><li>Californie</li><li>Texas</li><li>Østlandet</li></region><settlement><li>Oslo</li><li>San Francisco</li></settlement></list><tree><country name="États-Unis"><noRegion><name sortKey="Bull, Laura N" sort="Bull, Laura N" uniqKey="Bull L" first="Laura N." last="Bull">Laura N. Bull</name></noRegion><name sortKey="Aagenaes, Ystein" sort="Aagenaes, Ystein" uniqKey="Aagenaes " first=" Ystein" last="Aagenaes"> Ystein Aagenaes</name><name sortKey="Bull, Laura N" sort="Bull, Laura N" uniqKey="Bull L" first="Laura N." last="Bull">Laura N. Bull</name><name sortKey="Freimer, Nelson B" sort="Freimer, Nelson B" uniqKey="Freimer N" first="Nelson B." last="Freimer">Nelson B. Freimer</name><name sortKey="Roche, Erin" sort="Roche, Erin" uniqKey="Roche E" first="Erin" last="Roche">Erin Roche</name><name sortKey="Song, Eyun J" sort="Song, Eyun J" uniqKey="Song E" first="Eyun J." last="Song">Eyun J. Song</name></country><country name="Norvège"><region name="Østlandet"><name sortKey="Pedersen, Jan" sort="Pedersen, Jan" uniqKey="Pedersen J" first="Jan" last="Pedersen">Jan Pedersen</name></region><name sortKey="Eiklid, Kristin" sort="Eiklid, Kristin" uniqKey="Eiklid K" first="Kristin" last="Eiklid">Kristin Eiklid</name><name sortKey="Knisely, A S" sort="Knisely, A S" uniqKey="Knisely A" first="A. S." last="Knisely">A. S. Knisely</name><name sortKey="Van Der Hagen, C B" sort="Van Der Hagen, C B" uniqKey="Van Der Hagen C" first="C. B." last="Van Der Hagen">C. B. Van Der Hagen</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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