Multilocus analysis of the fragile X syndrome
Identifieur interne : 00DF07 ( Main/Exploration ); précédent : 00DF06; suivant : 00DF08Multilocus analysis of the fragile X syndrome
Auteurs : W. T. Brown [États-Unis] ; A. Gross [États-Unis] ; C. Chan [États-Unis] ; E. C. Jenkins [États-Unis] ; J. L. Mandel [France] ; I. Oberlé [France] ; B. Arveiler [France] ; G. Novelli [France] ; S. Thibodeau [États-Unis] ; R. Hagerman [États-Unis] ; K. Summers [États-Unis] ; G. Turner [Australie] ; B. N. White [Canada] ; L. Mulligan [Canada] ; C. Forster-Gibson [Canada] ; J. J. A. Holden [Canada] ; B. Zoll [Allemagne] ; M. Krawczak [Allemagne] ; P. Goonewardena [Suède] ; K. H. Gustavson [Suède] ; U. Pettersson [Suède] ; G. Holmgren [Suède] ; C. Schwartz [États-Unis] ; P. N. Howard-Peebles [États-Unis] ; P. Murphy [États-Unis] ; W. R. Breg [États-Unis] ; H. Veenema [Pays-Bas] ; N. J. Carpenter [États-Unis]Source :
- Human Genetics [ 0340-6717 ] ; 1988-03-01.
Descripteurs français
- Wicri :
- topic : Famille nombreuse.
English descriptors
- KwdEn :
- Adjacent loci, Carrier detection, Cell line, Chromosome, Coagulation factor, Factor viii gene, Fragile site, Genet, Genetic analysis, Genetic counseling, Genetic heterogeneity, Genetic linkage heterogeneity, Genetic mapping, Heterogeneity, High frequency, Large family, Likely order, Linkage, Linkage analysis, Linkage information, Linkage program, Linkage studies, Locus, Loose linkage, Mattei, Mental retardation, Mental retardation syndrome, Multilocus analysis, Multipoint analysis, Normal families, Other families, Pedigree, Polymorphic, Positive males, Prenatal diagnosis, Proc natl acad, Recombinant, Recombinant fractions, Recombination, Retardation, Square roots, Standard errors, Syndrome, Telomeric region, Tight linkage, University hospital, Veenema.
- Teeft :
- Adjacent loci, Carrier detection, Cell line, Chromosome, Coagulation factor, Factor viii gene, Fragile site, Genet, Genetic analysis, Genetic counseling, Genetic heterogeneity, Genetic linkage heterogeneity, Genetic mapping, Heterogeneity, High frequency, Large family, Likely order, Linkage, Linkage analysis, Linkage information, Linkage program, Linkage studies, Locus, Loose linkage, Mattei, Mental retardation, Mental retardation syndrome, Multilocus analysis, Multipoint analysis, Normal families, Other families, Pedigree, Polymorphic, Positive males, Prenatal diagnosis, Proc natl acad, Recombinant, Recombinant fractions, Recombination, Retardation, Square roots, Standard errors, Syndrome, Telomeric region, Tight linkage, University hospital, Veenema.
Abstract
Summary: A multilocus analysis of the fragile X (fra(X)) syndrome was conducted with 147 families. Two proximal loci, DXS51 and F9, and two distal loci, DXS52 and DXS15, were studied. Overall, the best multipoint distances were found to be DXS51-F9, 6.9%, F9-fra(X), 22.4%; fra(X)-DXS52, 12.7%; DXS52-DXS15, 2.2%. These distances can be used for multipoint mapping of new probes, carrier testing and counseling of fra(X) families. Consistent with several previous studies, the families as a whole showed genetic heterogeneity for linkage between F9 and fra(X).
Url:
DOI: 10.1007/BF00291662
Affiliations:
- Allemagne, Australie, Canada, France, Pays-Bas, Suède, États-Unis
- Alsace (région administrative), Basse-Saxe, Caroline du Sud, Colorado, Connecticut, Grand Est, Hollande-Méridionale, Minnesota, Oklahoma, Texas, Virginie, État de New York
- Göttingen, Leyde, Strasbourg Cédex
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 001738
- to stream Istex, to step Curation: 001738
- to stream Istex, to step Checkpoint: 002D52
- to stream Main, to step Merge: 00F144
- to stream Main, to step Curation: 00DF07
Le document en format XML
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Zoll</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Genetische Beratungsstelle IM, Institut für Humangenetik, Gosslerstrasse 12 D, D-3400, Göttingen</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Göttingen</settlement></placeName></affiliation></author><author><name sortKey="Krawczak, M" sort="Krawczak, M" uniqKey="Krawczak M" first="M." last="Krawczak">M. Krawczak</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Genetische Beratungsstelle IM, Institut für Humangenetik, Gosslerstrasse 12 D, D-3400, Göttingen</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Göttingen</settlement></placeName></affiliation></author><author><name sortKey="Goonewardena, P" sort="Goonewardena, P" uniqKey="Goonewardena P" first="P." last="Goonewardena">P. Goonewardena</name><affiliation wicri:level="1"><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Medical Genetics, BMC, Uppsala</wicri:regionArea><wicri:noRegion>Uppsala</wicri:noRegion></affiliation></author><author><name sortKey="Gustavson, K H" sort="Gustavson, K H" uniqKey="Gustavson K" first="K. H." last="Gustavson">K. H. Gustavson</name><affiliation wicri:level="1"><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Clinical Genetics, University Hospital, S-75185, Uppsala</wicri:regionArea><wicri:noRegion>Uppsala</wicri:noRegion></affiliation></author><author><name sortKey="Pettersson, U" sort="Pettersson, U" uniqKey="Pettersson U" first="U." last="Pettersson">U. Pettersson</name><affiliation wicri:level="1"><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Medical Genetics, BMC, Uppsala</wicri:regionArea><wicri:noRegion>Uppsala</wicri:noRegion></affiliation></author><author><name sortKey="Holmgren, G" sort="Holmgren, G" uniqKey="Holmgren G" first="G." last="Holmgren">G. Holmgren</name><affiliation wicri:level="1"><country xml:lang="fr">Suède</country><wicri:regionArea>Clinical Genetics, University Hospital, Umeå</wicri:regionArea><wicri:noRegion>Umeå</wicri:noRegion></affiliation></author><author><name sortKey="Schwartz, C" sort="Schwartz, C" uniqKey="Schwartz C" first="C." last="Schwartz">C. Schwartz</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Greenwood Genetic Center, Greenwood Professional Park, Greenwood, South Carolina</wicri:regionArea><placeName><region type="state">Caroline du Sud</region></placeName></affiliation></author><author><name sortKey="Howard Peebles, P N" sort="Howard Peebles, P N" uniqKey="Howard Peebles P" first="P. N." last="Howard-Peebles">P. N. Howard-Peebles</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Genetics and IVF Institute, 3020 Javier Road, 22031, Fairfax, VA</wicri:regionArea><placeName><region type="state">Virginie</region></placeName></affiliation></author><author><name sortKey="Murphy, P" sort="Murphy, P" uniqKey="Murphy P" first="P." last="Murphy">P. Murphy</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Human Genetics, Yale University School of Medicine, 10313 SHM, P.O. Box 3333, 06510-8005, New Haven, CT</wicri:regionArea><placeName><region type="state">Connecticut</region></placeName></affiliation></author><author><name sortKey="Breg, W R" sort="Breg, W R" uniqKey="Breg W" first="W. R." last="Breg">W. R. Breg</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Human Genetics, Yale University School of Medicine, 10313 SHM, P.O. Box 3333, 06510-8005, New Haven, CT</wicri:regionArea><placeName><region type="state">Connecticut</region></placeName></affiliation></author><author><name sortKey="Veenema, H" sort="Veenema, H" uniqKey="Veenema H" first="H." last="Veenema">H. Veenema</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Institute voor Anthropogenetica, University of Leiden, P.O. Box 9503, NL-2300 RA, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Carpenter, N J" sort="Carpenter, N J" uniqKey="Carpenter N" first="N. J." last="Carpenter">N. J. Carpenter</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Children's Medical Center, 5300 Skelley Drive, 74153, Tulsa, OK</wicri:regionArea><placeName><region type="state">Oklahoma</region></placeName></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="1988-03-01">1988-03-01</date><biblScope unit="volume">78</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="201">201</biblScope><biblScope unit="page" to="205">205</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>Adjacent loci</term><term>Carrier detection</term><term>Cell line</term><term>Chromosome</term><term>Coagulation factor</term><term>Factor viii gene</term><term>Fragile site</term><term>Genet</term><term>Genetic analysis</term><term>Genetic counseling</term><term>Genetic heterogeneity</term><term>Genetic linkage heterogeneity</term><term>Genetic mapping</term><term>Heterogeneity</term><term>High frequency</term><term>Large family</term><term>Likely order</term><term>Linkage</term><term>Linkage analysis</term><term>Linkage information</term><term>Linkage program</term><term>Linkage studies</term><term>Locus</term><term>Loose linkage</term><term>Mattei</term><term>Mental retardation</term><term>Mental retardation syndrome</term><term>Multilocus analysis</term><term>Multipoint analysis</term><term>Normal families</term><term>Other families</term><term>Pedigree</term><term>Polymorphic</term><term>Positive males</term><term>Prenatal diagnosis</term><term>Proc natl acad</term><term>Recombinant</term><term>Recombinant fractions</term><term>Recombination</term><term>Retardation</term><term>Square roots</term><term>Standard errors</term><term>Syndrome</term><term>Telomeric region</term><term>Tight linkage</term><term>University hospital</term><term>Veenema</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Adjacent loci</term><term>Carrier detection</term><term>Cell line</term><term>Chromosome</term><term>Coagulation factor</term><term>Factor viii gene</term><term>Fragile site</term><term>Genet</term><term>Genetic analysis</term><term>Genetic counseling</term><term>Genetic heterogeneity</term><term>Genetic linkage heterogeneity</term><term>Genetic mapping</term><term>Heterogeneity</term><term>High frequency</term><term>Large family</term><term>Likely order</term><term>Linkage</term><term>Linkage analysis</term><term>Linkage information</term><term>Linkage program</term><term>Linkage studies</term><term>Locus</term><term>Loose linkage</term><term>Mattei</term><term>Mental retardation</term><term>Mental retardation syndrome</term><term>Multilocus analysis</term><term>Multipoint analysis</term><term>Normal families</term><term>Other families</term><term>Pedigree</term><term>Polymorphic</term><term>Positive males</term><term>Prenatal diagnosis</term><term>Proc natl acad</term><term>Recombinant</term><term>Recombinant fractions</term><term>Recombination</term><term>Retardation</term><term>Square roots</term><term>Standard errors</term><term>Syndrome</term><term>Telomeric region</term><term>Tight linkage</term><term>University hospital</term><term>Veenema</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Famille nombreuse</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Summary: A multilocus analysis of the fragile X (fra(X)) syndrome was conducted with 147 families. Two proximal loci, DXS51 and F9, and two distal loci, DXS52 and DXS15, were studied. Overall, the best multipoint distances were found to be DXS51-F9, 6.9%, F9-fra(X), 22.4%; fra(X)-DXS52, 12.7%; DXS52-DXS15, 2.2%. These distances can be used for multipoint mapping of new probes, carrier testing and counseling of fra(X) families. Consistent with several previous studies, the families as a whole showed genetic heterogeneity for linkage between F9 and fra(X).</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Canada</li><li>France</li><li>Pays-Bas</li><li>Suède</li><li>États-Unis</li></country><region><li>Alsace (région administrative)</li><li>Basse-Saxe</li><li>Caroline du Sud</li><li>Colorado</li><li>Connecticut</li><li>Grand Est</li><li>Hollande-Méridionale</li><li>Minnesota</li><li>Oklahoma</li><li>Texas</li><li>Virginie</li><li>État de New York</li></region><settlement><li>Göttingen</li><li>Leyde</li><li>Strasbourg Cédex</li></settlement></list><tree><country name="États-Unis"><region name="État de New York"><name sortKey="Brown, W T" sort="Brown, W T" uniqKey="Brown W" first="W. T." last="Brown">W. T. Brown</name></region><name sortKey="Breg, W R" sort="Breg, W R" uniqKey="Breg W" first="W. R." last="Breg">W. R. Breg</name><name sortKey="Carpenter, N J" sort="Carpenter, N J" uniqKey="Carpenter N" first="N. J." last="Carpenter">N. J. Carpenter</name><name sortKey="Chan, C" sort="Chan, C" uniqKey="Chan C" first="C." last="Chan">C. Chan</name><name sortKey="Gross, A" sort="Gross, A" uniqKey="Gross A" first="A." last="Gross">A. Gross</name><name sortKey="Hagerman, R" sort="Hagerman, R" uniqKey="Hagerman R" first="R." last="Hagerman">R. Hagerman</name><name sortKey="Howard Peebles, P N" sort="Howard Peebles, P N" uniqKey="Howard Peebles P" first="P. N." last="Howard-Peebles">P. N. Howard-Peebles</name><name sortKey="Jenkins, E C" sort="Jenkins, E C" uniqKey="Jenkins E" first="E. C." last="Jenkins">E. C. Jenkins</name><name sortKey="Murphy, P" sort="Murphy, P" uniqKey="Murphy P" first="P." last="Murphy">P. Murphy</name><name sortKey="Schwartz, C" sort="Schwartz, C" uniqKey="Schwartz C" first="C." last="Schwartz">C. Schwartz</name><name sortKey="Summers, K" sort="Summers, K" uniqKey="Summers K" first="K." last="Summers">K. Summers</name><name sortKey="Thibodeau, S" sort="Thibodeau, S" uniqKey="Thibodeau S" first="S." last="Thibodeau">S. Thibodeau</name></country><country name="France"><noRegion><name sortKey="Mandel, J L" sort="Mandel, J L" uniqKey="Mandel J" first="J. L." last="Mandel">J. L. Mandel</name></noRegion><name sortKey="Arveiler, B" sort="Arveiler, B" uniqKey="Arveiler B" first="B." last="Arveiler">B. Arveiler</name><name sortKey="Novelli, G" sort="Novelli, G" uniqKey="Novelli G" first="G." last="Novelli">G. Novelli</name><name sortKey="Oberle, I" sort="Oberle, I" uniqKey="Oberle I" first="I." last="Oberlé">I. Oberlé</name></country><country name="Australie"><noRegion><name sortKey="Turner, G" sort="Turner, G" uniqKey="Turner G" first="G." last="Turner">G. Turner</name></noRegion></country><country name="Canada"><noRegion><name sortKey="White, B N" sort="White, B N" uniqKey="White B" first="B. N." last="White">B. N. White</name></noRegion><name sortKey="Forster Gibson, C" sort="Forster Gibson, C" uniqKey="Forster Gibson C" first="C." last="Forster-Gibson">C. Forster-Gibson</name><name sortKey="Forster Gibson, C" sort="Forster Gibson, C" uniqKey="Forster Gibson C" first="C." last="Forster-Gibson">C. Forster-Gibson</name><name sortKey="Holden, J J A" sort="Holden, J J A" uniqKey="Holden J" first="J. J. A." last="Holden">J. J. A. Holden</name><name sortKey="Mulligan, L" sort="Mulligan, L" uniqKey="Mulligan L" first="L." last="Mulligan">L. Mulligan</name></country><country name="Allemagne"><region name="Basse-Saxe"><name sortKey="Zoll, B" sort="Zoll, B" uniqKey="Zoll B" first="B." last="Zoll">B. Zoll</name></region><name sortKey="Krawczak, M" sort="Krawczak, M" uniqKey="Krawczak M" first="M." last="Krawczak">M. Krawczak</name></country><country name="Suède"><noRegion><name sortKey="Goonewardena, P" sort="Goonewardena, P" uniqKey="Goonewardena P" first="P." last="Goonewardena">P. Goonewardena</name></noRegion><name sortKey="Gustavson, K H" sort="Gustavson, K H" uniqKey="Gustavson K" first="K. H." last="Gustavson">K. H. Gustavson</name><name sortKey="Holmgren, G" sort="Holmgren, G" uniqKey="Holmgren G" first="G." last="Holmgren">G. Holmgren</name><name sortKey="Pettersson, U" sort="Pettersson, U" uniqKey="Pettersson U" first="U." last="Pettersson">U. Pettersson</name></country><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Veenema, H" sort="Veenema, H" uniqKey="Veenema H" first="H." last="Veenema">H. Veenema</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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