Hereditary Lymphedema: Evidence for Linkage and Genetic Heterogeneity
Identifieur interne : 00B255 ( Main/Exploration ); précédent : 00B254; suivant : 00B256Hereditary Lymphedema: Evidence for Linkage and Genetic Heterogeneity
Auteurs : Robert E. Ferrell [États-Unis] ; Kara L. Levinson [États-Unis] ; Judith H. Esman [États-Unis] ; Mark A. Kimak [États-Unis] ; Elizabeth C. Lawrence [États-Unis] ; M. Michael Barmada [États-Unis] ; David N. Finegold [États-Unis]Source :
- Human Molecular Genetics [ 0964-6906 ] ; 1998-12.
Descripteurs français
- KwdFr :
- ADN (), ADN (génétique), Analyse de mutations d'ADN, Chromosomes humains de la paire 5 (génétique), Famille, Femelle, Génotype, Humains, Hétérogénéité génétique, Liaison génétique, Lod score, Lymphoedème (génétique), Marqueurs génétiques, Mutation ponctuelle, Mâle, Pedigree, Prédisposition génétique à une maladie (génétique), Récepteur-3 au facteur croissance endothéliale vasculaire, Récepteurs de surface cellulaire (génétique), Récepteurs à activité tyrosine kinase (génétique), Santé de la famille.
- MESH :
- Pascal (Inist)
- ADN, Analyse de mutations d'ADN, Carte génétique, Chromosome B5, Etude familiale, Facteur croissance endothélium vasculaire, Famille, Femelle, Gène, Génotype, Homme, Humains, Hétérogénéité, Hétérogénéité génétique, Liaison génétique, Lod score, Lymphoedème, Marqueurs génétiques, Mutation, Mutation ponctuelle, Mâle, Pedigree, Récepteur biologique, Récepteur-3 au facteur croissance endothéliale vasculaire, Santé de la famille.
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Biological receptor, Chromosome B5, Chromosomes, Human, Pair 5 (genetics), DNA (chemistry), DNA (genetics), DNA Mutational Analysis, Family, Family Health, Family study, Female, Gene, Genetic Heterogeneity, Genetic Linkage, Genetic Markers, Genetic Predisposition to Disease (genetics), Genetic mapping, Genotype, Heterogeneity, Human, Humans, Linkage, Lod Score, Lymphedema, Lymphedema (genetics), Male, Mutation, Pedigree, Point Mutation, Receptor Protein-Tyrosine Kinases (genetics), Receptors, Cell Surface (genetics), Vascular Endothelial Growth Factor Receptor-3, Vascular endothelium growth factor.
- MESH :
- chemical , chemistry : DNA.
- genetics : Chromosomes, Human, Pair 5, DNA, Genetic Predisposition to Disease, Lymphedema, Receptor Protein-Tyrosine Kinases, Receptors, Cell Surface.
- DNA Mutational Analysis, Family, Family Health, Female, Genetic Heterogeneity, Genetic Linkage, Genetic Markers, Genotype, Humans, Lod Score, Male, Pedigree, Point Mutation, Vascular Endothelial Growth Factor Receptor-3.
Abstract
Hereditary or primary lymphedema is a developmental disorder of the lymphatic system which leads to a disabling and disfiguring swelling of the extremities. Hereditary lymphedema generally shows an autosomal dominant pattern of inheritance with reduced pene-trance, variable expression and variable age at onset. Three multigeneration families demonstrating the phenotype of hereditary lymphedema segregating as an autosomal dominant trait with incomplete pene-trance were genotyped for 366 autosomal markers. Linkage analysis yielded a two-point LOD score of 6.1 at θ = 0.0 for marker D5S1354and a maximum multipoint LOD score of 8.8 at marker D5S1354 located at chromosome 5q34-q35. Linkage analysis in two additional families using markers from the linked region showed one family consistent for linkage to distal chromosome 5. In the second family, linkage to 5q was excluded for all markers in the region with LOD scores Z< − 2.0. The vascular endothelial growth factor C receptor (FLT4) was mapped to the linked region, and partial sequence analysis identified a G→A transition at nucleotide position 3360 of the FLT4 cDNA, predicting a leucine for proline substitution at residue 1126 of the mature receptor in one nuclear family. This study localizes a gene for primary lymphedema to distal chromosome 5q, identifies a plausible candidate gene in the linked region, and provides evidence for a second, unlinked locus for primary lymphedema.
Url:
DOI: 10.1093/hmg/7.13.2073
Affiliations:
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Ferrell</name><affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Human Genetics, University of Pittsburgh, 130 DeSoto Street, Pittsburgh, PA 15261</wicri:regionArea><placeName><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Levinson, Kara L" sort="Levinson, Kara L" uniqKey="Levinson K" first="Kara L." last="Levinson">Kara L. 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type="abbrev">Human Molecular Genetics</title><idno type="ISSN">0964-6906</idno><idno type="eISSN">1460-2083</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="1998-12">1998-12</date><biblScope unit="volume">7</biblScope><biblScope unit="issue">13</biblScope><biblScope unit="page" from="2073">2073</biblScope><biblScope unit="page" to="2078">2078</biblScope></imprint><idno type="ISSN">0964-6906</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0964-6906</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Biological receptor</term><term>Chromosome B5</term><term>Chromosomes, Human, Pair 5 (genetics)</term><term>DNA (chemistry)</term><term>DNA (genetics)</term><term>DNA Mutational Analysis</term><term>Family</term><term>Family Health</term><term>Family study</term><term>Female</term><term>Gene</term><term>Genetic Heterogeneity</term><term>Genetic Linkage</term><term>Genetic Markers</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genetic mapping</term><term>Genotype</term><term>Heterogeneity</term><term>Human</term><term>Humans</term><term>Linkage</term><term>Lod Score</term><term>Lymphedema</term><term>Lymphedema (genetics)</term><term>Male</term><term>Mutation</term><term>Pedigree</term><term>Point Mutation</term><term>Receptor Protein-Tyrosine Kinases (genetics)</term><term>Receptors, Cell Surface (genetics)</term><term>Vascular Endothelial Growth Factor Receptor-3</term><term>Vascular endothelium growth factor</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>ADN ()</term><term>ADN (génétique)</term><term>Analyse de mutations d'ADN</term><term>Chromosomes humains de la paire 5 (génétique)</term><term>Famille</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Hétérogénéité génétique</term><term>Liaison génétique</term><term>Lod score</term><term>Lymphoedème (génétique)</term><term>Marqueurs génétiques</term><term>Mutation ponctuelle</term><term>Mâle</term><term>Pedigree</term><term>Prédisposition génétique à une maladie (génétique)</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire</term><term>Récepteurs de surface cellulaire (génétique)</term><term>Récepteurs à activité tyrosine kinase (génétique)</term><term>Santé de la famille</term></keywords><keywords scheme="MESH" type="chemical" qualifier="chemistry" xml:lang="en"><term>DNA</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 5</term><term>DNA</term><term>Genetic Predisposition to Disease</term><term>Lymphedema</term><term>Receptor Protein-Tyrosine Kinases</term><term>Receptors, Cell Surface</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>ADN</term><term>Chromosomes humains de la paire 5</term><term>Lymphoedème</term><term>Prédisposition génétique à une maladie</term><term>Récepteurs de surface cellulaire</term><term>Récepteurs à activité tyrosine kinase</term></keywords><keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term><term>Family</term><term>Family Health</term><term>Female</term><term>Genetic Heterogeneity</term><term>Genetic Linkage</term><term>Genetic Markers</term><term>Genotype</term><term>Humans</term><term>Lod Score</term><term>Male</term><term>Pedigree</term><term>Point Mutation</term><term>Vascular Endothelial Growth Factor Receptor-3</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>ADN</term><term>Analyse de mutations d'ADN</term><term>Carte génétique</term><term>Chromosome B5</term><term>Etude familiale</term><term>Facteur croissance endothélium vasculaire</term><term>Famille</term><term>Femelle</term><term>Gène</term><term>Génotype</term><term>Homme</term><term>Humains</term><term>Hétérogénéité</term><term>Hétérogénéité génétique</term><term>Liaison génétique</term><term>Lod score</term><term>Lymphoedème</term><term>Marqueurs génétiques</term><term>Mutation</term><term>Mutation ponctuelle</term><term>Mâle</term><term>Pedigree</term><term>Récepteur biologique</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire</term><term>Santé de la famille</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract">Hereditary or primary lymphedema is a developmental disorder of the lymphatic system which leads to a disabling and disfiguring swelling of the extremities. Hereditary lymphedema generally shows an autosomal dominant pattern of inheritance with reduced pene-trance, variable expression and variable age at onset. Three multigeneration families demonstrating the phenotype of hereditary lymphedema segregating as an autosomal dominant trait with incomplete pene-trance were genotyped for 366 autosomal markers. Linkage analysis yielded a two-point LOD score of 6.1 at θ = 0.0 for marker D5S1354and a maximum multipoint LOD score of 8.8 at marker D5S1354 located at chromosome 5q34-q35. Linkage analysis in two additional families using markers from the linked region showed one family consistent for linkage to distal chromosome 5. In the second family, linkage to 5q was excluded for all markers in the region with LOD scores Z< − 2.0. The vascular endothelial growth factor C receptor (FLT4) was mapped to the linked region, and partial sequence analysis identified a G→A transition at nucleotide position 3360 of the FLT4 cDNA, predicting a leucine for proline substitution at residue 1126 of the mature receptor in one nuclear family. This study localizes a gene for primary lymphedema to distal chromosome 5q, identifies a plausible candidate gene in the linked region, and provides evidence for a second, unlinked locus for primary lymphedema.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Pennsylvanie</li></region><settlement><li>Pittsburgh</li></settlement><orgName><li>Université de Pittsburgh</li></orgName></list><tree><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Ferrell, Robert E" sort="Ferrell, Robert E" uniqKey="Ferrell R" first="Robert E." last="Ferrell">Robert E. Ferrell</name></region><name sortKey="Esman, Judith H" sort="Esman, Judith H" uniqKey="Esman J" first="Judith H." last="Esman">Judith H. Esman</name><name sortKey="Finegold, David N" sort="Finegold, David N" uniqKey="Finegold D" first="David N." last="Finegold">David N. Finegold</name><name sortKey="Finegold, David N" sort="Finegold, David N" uniqKey="Finegold D" first="David N." last="Finegold">David N. Finegold</name><name sortKey="Finegold, David N" sort="Finegold, David N" uniqKey="Finegold D" first="David N." last="Finegold">David N. Finegold</name><name sortKey="Kimak, Mark A" sort="Kimak, Mark A" uniqKey="Kimak M" first="Mark A." last="Kimak">Mark A. Kimak</name><name sortKey="Lawrence, Elizabeth C" sort="Lawrence, Elizabeth C" uniqKey="Lawrence E" first="Elizabeth C." last="Lawrence">Elizabeth C. Lawrence</name><name sortKey="Levinson, Kara L" sort="Levinson, Kara L" uniqKey="Levinson K" first="Kara L." last="Levinson">Kara L. Levinson</name><name sortKey="Michael Barmada, M" sort="Michael Barmada, M" uniqKey="Michael Barmada M" first="M." last="Michael Barmada">M. Michael Barmada</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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