Segregation analyses and a genome‐wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families
Identifieur interne : 009D43 ( Main/Exploration ); précédent : 009D42; suivant : 009D44Segregation analyses and a genome‐wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families
Auteurs : Catharine J. Holberg [États-Unis] ; Robert P. Erickson [États-Unis] ; Michael J. Bernas [États-Unis] ; Marlys H. Witte [États-Unis] ; Kimberly E. Fultz [États-Unis] ; M. Andrade [Brésil] ; Charles L. Witte [États-Unis]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 2001-02-01.
Descripteurs français
- KwdFr :
- Cartographie chromosomique, Chromosomes humains de la paire 11 (génétique), Chromosomes humains de la paire 18 (génétique), Chromosomes humains de la paire 3 (génétique), Chromosomes humains de la paire 4 (génétique), Femelle, Génome humain, Humains, Hétérogénéité génétique, Lod score, Lymphoedème (), Lymphoedème (génétique), Mâle, Répétitions microsatellites, Santé de la famille.
- MESH :
- Pascal (Inist)
- Analyse ségrégation, Cartographie chromosomique, Congénital, Déterminisme génétique, Etude familiale, Femelle, Génome, Génome humain, Homme, Humains, Hétérogénéité, Hétérogénéité génétique, Liaison génétique, Lod score, Lymphoedème, Mâle, Méthode multipoint, Méthode paramétrique, Pathogénie, Répétitions microsatellites, Santé de la famille.
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Chromosome Mapping, Chromosomes, Human, Pair 11 (genetics), Chromosomes, Human, Pair 18 (genetics), Chromosomes, Human, Pair 3 (genetics), Chromosomes, Human, Pair 4 (genetics), Congenital, Family Health, Family study, Female, Genetic Heterogeneity, Genetic determinism, Genome, Genome, Human, Heterogeneity, Human, Humans, Linkage, Lod Score, Lymphedema, Lymphedema (congenital), Lymphedema (genetics), Male, Microsatellite Repeats, Multipoint method, Parametric method, Pathogenesis, Segregation analysis.
- MESH :
Abstract
We previously described six families with Milroy congenital lymphedema, only one of which showed possible linkage to a candidate locus on chromosome 5 [Witte et al., 1998]. We have now performed a complex segregation analysis of these families, and performed linkage analyses with the other 387 markers used in our genome‐wide search. Our results confirm that Milroy lymphedema is generally inherited as a dominant condition. However, this mode of inheritance, as elucidated from the segregation analyses, did not account for all observed familial correlations. The segregation analysis also suggested that shared environmental or additional genetic factors are important in explaining the observed familial aggregation. The finding of linkage to multiple locations in the largest family studied by multipoint parametric mapping (one of which was confirmed by sib‐pair non‐parametric mapping), suggests that Milroy congenital lymphedema may be oligogenic in this family. © 2001 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/1096-8628(20010201)98:4<303::AID-AJMG1113>3.0.CO;2-9
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 005251
- to stream Istex, to step Curation: 005251
- to stream Istex, to step Checkpoint: 002A45
- to stream Main, to step Merge: 00A195
- to stream PascalFrancis, to step Corpus: 000869
- to stream PascalFrancis, to step Curation: 000091
- to stream PascalFrancis, to step Checkpoint: 000820
- to stream Main, to step Merge: 00A578
- to stream PubMed, to step Corpus: 004915
- to stream PubMed, to step Curation: 004915
- to stream PubMed, to step Checkpoint: 004915
- to stream Ncbi, to step Merge: 000529
- to stream Ncbi, to step Curation: 000529
- to stream Ncbi, to step Checkpoint: 000529
- to stream Main, to step Merge: 009D78
- to stream Main, to step Curation: 009D43
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Segregation analyses and a genome‐wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families</title><author><name sortKey="Holberg, Catharine J" sort="Holberg, Catharine J" uniqKey="Holberg C" first="Catharine J." last="Holberg">Catharine J. Holberg</name></author><author><name sortKey="Erickson, Robert P" sort="Erickson, Robert P" uniqKey="Erickson R" first="Robert P." last="Erickson">Robert P. Erickson</name></author><author><name sortKey="Bernas, Michael J" sort="Bernas, Michael J" uniqKey="Bernas M" first="Michael J." last="Bernas">Michael J. Bernas</name></author><author><name sortKey="Witte, Marlys H" sort="Witte, Marlys H" uniqKey="Witte M" first="Marlys H." last="Witte">Marlys H. Witte</name></author><author><name sortKey="Fultz, Kimberly E" sort="Fultz, Kimberly E" uniqKey="Fultz K" first="Kimberly E." last="Fultz">Kimberly E. Fultz</name></author><author><name sortKey="Andrade, M" sort="Andrade, M" uniqKey="Andrade M" first="M." last="Andrade">M. Andrade</name></author><author><name sortKey="Witte, Charles L" sort="Witte, Charles L" uniqKey="Witte C" first="Charles L." last="Witte">Charles L. Witte</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:AFBEAC1346A586608500CD9844B8FE6B0298C362</idno><date when="2001" year="2001">2001</date><idno type="doi">10.1002/1096-8628(20010201)98:4<303::AID-AJMG1113>3.0.CO;2-9</idno><idno type="url">https://api.istex.fr/document/AFBEAC1346A586608500CD9844B8FE6B0298C362/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">005251</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">005251</idno><idno type="wicri:Area/Istex/Curation">005251</idno><idno type="wicri:Area/Istex/Checkpoint">002A45</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">002A45</idno><idno type="wicri:doubleKey">0148-7299:2001:Holberg C:segregation:analyses:and</idno><idno type="wicri:Area/Main/Merge">00A195</idno><idno type="wicri:source">INIST</idno><idno type="RBID">Pascal:01-0138864</idno><idno type="wicri:Area/PascalFrancis/Corpus">000869</idno><idno type="wicri:Area/PascalFrancis/Curation">000091</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000820</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000820</idno><idno type="wicri:doubleKey">0148-7299:2001:Holberg C:segregation:analyses:and</idno><idno type="wicri:Area/Main/Merge">00A578</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:11170072</idno><idno type="wicri:Area/PubMed/Corpus">004915</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">004915</idno><idno type="wicri:Area/PubMed/Curation">004915</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">004915</idno><idno type="wicri:Area/PubMed/Checkpoint">004915</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">004915</idno><idno type="wicri:Area/Ncbi/Merge">000529</idno><idno type="wicri:Area/Ncbi/Curation">000529</idno><idno type="wicri:Area/Ncbi/Checkpoint">000529</idno><idno type="wicri:doubleKey">0148-7299:2001:Holberg C:segregation:analyses:and</idno><idno type="wicri:Area/Main/Merge">009D78</idno><idno type="wicri:Area/Main/Curation">009D43</idno><idno type="wicri:Area/Main/Exploration">009D43</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Segregation analyses and a genome‐wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families</title><author><name sortKey="Holberg, Catharine J" sort="Holberg, Catharine J" uniqKey="Holberg C" first="Catharine J." last="Holberg">Catharine J. Holberg</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Arizona</region></placeName><wicri:cityArea>Respiratory Sciences Center, University of Arizona College of Medicine, Tucson</wicri:cityArea></affiliation></author><author><name sortKey="Erickson, Robert P" sort="Erickson, Robert P" uniqKey="Erickson R" first="Robert P." last="Erickson">Robert P. Erickson</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Arizona</region></placeName><wicri:cityArea>Steele Memorial Children's Research Center, Department of Pediatrics, University of Arizona College of Medicine, Tucson</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Arizona</region></placeName><wicri:cityArea>Department of Molecular and Cellular Biology, University of Arizona College of Medicine, Tucson</wicri:cityArea></affiliation><affiliation></affiliation></author><author><name sortKey="Bernas, Michael J" sort="Bernas, Michael J" uniqKey="Bernas M" first="Michael J." last="Bernas">Michael J. Bernas</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Arizona</region></placeName><wicri:cityArea>Department of Surgery, University of Arizona College of Medicine, Tucson</wicri:cityArea></affiliation></author><author><name sortKey="Witte, Marlys H" sort="Witte, Marlys H" uniqKey="Witte M" first="Marlys H." last="Witte">Marlys H. Witte</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Arizona</region></placeName><wicri:cityArea>Department of Surgery, University of Arizona College of Medicine, Tucson</wicri:cityArea></affiliation></author><author><name sortKey="Fultz, Kimberly E" sort="Fultz, Kimberly E" uniqKey="Fultz K" first="Kimberly E." last="Fultz">Kimberly E. Fultz</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Arizona</region></placeName><wicri:cityArea>Department of Molecular and Cellular Biology, University of Arizona College of Medicine, Tucson</wicri:cityArea></affiliation></author><author><name sortKey="Andrade, M" sort="Andrade, M" uniqKey="Andrade M" first="M." last="Andrade">M. Andrade</name><affiliation wicri:level="4"><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Surgery, University of São Paulo, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></affiliation></author><author><name sortKey="Witte, Charles L" sort="Witte, Charles L" uniqKey="Witte C" first="Charles L." last="Witte">Charles L. Witte</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Arizona</region></placeName><wicri:cityArea>Department of Surgery, University of Arizona College of Medicine, Tucson</wicri:cityArea></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><biblScope unit="vol">98</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="303">303</biblScope><biblScope unit="page" to="312">312</biblScope><biblScope unit="page-count">10</biblScope><publisher>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><date type="published" when="2001-02-01">2001-02-01</date></imprint><idno type="ISSN">0148-7299</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 11 (genetics)</term><term>Chromosomes, Human, Pair 18 (genetics)</term><term>Chromosomes, Human, Pair 3 (genetics)</term><term>Chromosomes, Human, Pair 4 (genetics)</term><term>Congenital</term><term>Family Health</term><term>Family study</term><term>Female</term><term>Genetic Heterogeneity</term><term>Genetic determinism</term><term>Genome</term><term>Genome, Human</term><term>Heterogeneity</term><term>Human</term><term>Humans</term><term>Linkage</term><term>Lod Score</term><term>Lymphedema</term><term>Lymphedema (congenital)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Microsatellite Repeats</term><term>Multipoint method</term><term>Parametric method</term><term>Pathogenesis</term><term>Segregation analysis</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Cartographie chromosomique</term><term>Chromosomes humains de la paire 11 (génétique)</term><term>Chromosomes humains de la paire 18 (génétique)</term><term>Chromosomes humains de la paire 3 (génétique)</term><term>Chromosomes humains de la paire 4 (génétique)</term><term>Femelle</term><term>Génome humain</term><term>Humains</term><term>Hétérogénéité génétique</term><term>Lod score</term><term>Lymphoedème ()</term><term>Lymphoedème (génétique)</term><term>Mâle</term><term>Répétitions microsatellites</term><term>Santé de la famille</term></keywords><keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 11</term><term>Chromosomes, Human, Pair 18</term><term>Chromosomes, Human, Pair 3</term><term>Chromosomes, Human, Pair 4</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Chromosomes humains de la paire 11</term><term>Chromosomes humains de la paire 18</term><term>Chromosomes humains de la paire 3</term><term>Chromosomes humains de la paire 4</term><term>Lymphoedème</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Chromosome Mapping</term><term>Family Health</term><term>Female</term><term>Genetic Heterogeneity</term><term>Genome, Human</term><term>Humans</term><term>Lod Score</term><term>Male</term><term>Microsatellite Repeats</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Analyse ségrégation</term><term>Cartographie chromosomique</term><term>Congénital</term><term>Déterminisme génétique</term><term>Etude familiale</term><term>Femelle</term><term>Génome</term><term>Génome humain</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>Mâle</term><term>Méthode multipoint</term><term>Méthode paramétrique</term><term>Pathogénie</term><term>Répétitions microsatellites</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" xml:lang="fr">We previously described six families with Milroy congenital lymphedema, only one of which showed possible linkage to a candidate locus on chromosome 5 [Witte et al., 1998]. We have now performed a complex segregation analysis of these families, and performed linkage analyses with the other 387 markers used in our genome‐wide search. Our results confirm that Milroy lymphedema is generally inherited as a dominant condition. However, this mode of inheritance, as elucidated from the segregation analyses, did not account for all observed familial correlations. The segregation analysis also suggested that shared environmental or additional genetic factors are important in explaining the observed familial aggregation. The finding of linkage to multiple locations in the largest family studied by multipoint parametric mapping (one of which was confirmed by sib‐pair non‐parametric mapping), suggests that Milroy congenital lymphedema may be oligogenic in this family. © 2001 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Brésil</li><li>États-Unis</li></country><region><li>Arizona</li><li>État de São Paulo</li></region><settlement><li>São Paulo</li></settlement><orgName><li>Université de São Paulo</li></orgName></list><tree><country name="États-Unis"><region name="Arizona"><name sortKey="Holberg, Catharine J" sort="Holberg, Catharine J" uniqKey="Holberg C" first="Catharine J." last="Holberg">Catharine J. Holberg</name></region><name sortKey="Bernas, Michael J" sort="Bernas, Michael J" uniqKey="Bernas M" first="Michael J." last="Bernas">Michael J. Bernas</name><name sortKey="Erickson, Robert P" sort="Erickson, Robert P" uniqKey="Erickson R" first="Robert P." last="Erickson">Robert P. Erickson</name><name sortKey="Erickson, Robert P" sort="Erickson, Robert P" uniqKey="Erickson R" first="Robert P." last="Erickson">Robert P. Erickson</name><name sortKey="Fultz, Kimberly E" sort="Fultz, Kimberly E" uniqKey="Fultz K" first="Kimberly E." last="Fultz">Kimberly E. Fultz</name><name sortKey="Witte, Charles L" sort="Witte, Charles L" uniqKey="Witte C" first="Charles L." last="Witte">Charles L. Witte</name><name sortKey="Witte, Marlys H" sort="Witte, Marlys H" uniqKey="Witte M" first="Marlys H." last="Witte">Marlys H. Witte</name></country><country name="Brésil"><region name="État de São Paulo"><name sortKey="Andrade, M" sort="Andrade, M" uniqKey="Andrade M" first="M." last="Andrade">M. Andrade</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 009D43 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 009D43 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:AFBEAC1346A586608500CD9844B8FE6B0298C362
|texte= Segregation analyses and a genome‐wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families
}}
| This area was generated with Dilib version V0.6.31. |  |