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Article: Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13.

TitleClose linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13.
Authors
Issue Date1987
PublisherNational Academy of Sciences. The Journal's web site is located at http://www.pnas.org
Citation
Proceedings Of The National Academy Of Sciences Of The United States Of America, 1987, v. 84 n. 21, p. 7576-7579 How to Cite?
AbstractThe gene for X chromosome-linked severe combined immunodeficiency (SCID), a disease characterized by a block in early T-cell differentiation, has been mapped to the region Xq11-q13 by linkage analysis with restriction fragment length polymorphisms. High logarithm of odds (lod) scores were obtained with the marker 19.2 (DXS3) (z = 5.51 at a recombination fraction theta = 0.11) and with the marker cpX73 (DXS159) that showed complete cosegregation with the disease locus in the informative families analyzed (z = 5.27 at theta = 0.00). Other significant linkages were obtained with several markers from Xq11 to q22. With the help of a recently developed genetic map of the region, it was possible to perform multipoint linkage analysis, and the most likely genetic order is DXS1-(SCID, DXS159)-DXYS1-DXYS12-DXS3, with a maximum multipoint logarithm of odds score of 11.0. Our results demonstrate that the SCID locus (gene symbol IMD4) is not closely linked to the locus of Bruton's agammaglobulinemia (a defect in B-cell maturation). They also provide a way for a better estimation of risk for carrier and antenatal diagnosis.
Persistent Identifierhttp://hdl.handle.net/10722/170222
ISSN
2015 Impact Factor: 9.423
2015 SCImago Journal Rankings: 6.883
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorDe Saint Basile, Gen_US
dc.contributor.authorArveiler, Ben_US
dc.contributor.authorOberlé, Ien_US
dc.contributor.authorMalcolm, Sen_US
dc.contributor.authorLevinsky, RJen_US
dc.contributor.authorLau, YLen_US
dc.contributor.authorHofker, Men_US
dc.contributor.authorDebre, Men_US
dc.contributor.authorFischer, Aen_US
dc.contributor.authorGriscelli, Cen_US
dc.date.accessioned2012-10-30T06:06:47Z-
dc.date.available2012-10-30T06:06:47Z-
dc.date.issued1987en_US
dc.identifier.citationProceedings Of The National Academy Of Sciences Of The United States Of America, 1987, v. 84 n. 21, p. 7576-7579en_US
dc.identifier.issn0027-8424en_US
dc.identifier.urihttp://hdl.handle.net/10722/170222-
dc.description.abstractThe gene for X chromosome-linked severe combined immunodeficiency (SCID), a disease characterized by a block in early T-cell differentiation, has been mapped to the region Xq11-q13 by linkage analysis with restriction fragment length polymorphisms. High logarithm of odds (lod) scores were obtained with the marker 19.2 (DXS3) (z = 5.51 at a recombination fraction theta = 0.11) and with the marker cpX73 (DXS159) that showed complete cosegregation with the disease locus in the informative families analyzed (z = 5.27 at theta = 0.00). Other significant linkages were obtained with several markers from Xq11 to q22. With the help of a recently developed genetic map of the region, it was possible to perform multipoint linkage analysis, and the most likely genetic order is DXS1-(SCID, DXS159)-DXYS1-DXYS12-DXS3, with a maximum multipoint logarithm of odds score of 11.0. Our results demonstrate that the SCID locus (gene symbol IMD4) is not closely linked to the locus of Bruton's agammaglobulinemia (a defect in B-cell maturation). They also provide a way for a better estimation of risk for carrier and antenatal diagnosis.en_US
dc.languageengen_US
dc.publisherNational Academy of Sciences. The Journal's web site is located at http://www.pnas.orgen_US
dc.relation.ispartofProceedings of the National Academy of Sciences of the United States of Americaen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic Linkageen_US
dc.subject.meshGenotypeen_US
dc.subject.meshHumansen_US
dc.subject.meshImmunologic Deficiency Syndromes - Geneticsen_US
dc.subject.meshMaleen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPolymorphism, Geneticen_US
dc.subject.meshProbabilityen_US
dc.subject.meshX Chromosomeen_US
dc.titleClose linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13.en_US
dc.typeArticleen_US
dc.identifier.emailLau, YL:lauylung@hkucc.hku.hken_US
dc.identifier.authorityLau, YL=rp00361en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid3478714-
dc.identifier.scopuseid_2-s2.0-0023442485en_US
dc.identifier.volume84en_US
dc.identifier.issue21en_US
dc.identifier.spage7576en_US
dc.identifier.epage7579en_US
dc.identifier.isiWOS:A1987K780500048-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridde Saint Basile, G=7006625059en_US
dc.identifier.scopusauthoridArveiler, B=7003834660en_US
dc.identifier.scopusauthoridOberlé, I=16152622200en_US
dc.identifier.scopusauthoridMalcolm, S=7101923907en_US
dc.identifier.scopusauthoridLevinsky, RJ=7006539367en_US
dc.identifier.scopusauthoridLau, YL=7201403380en_US
dc.identifier.scopusauthoridHofker, M=7005271209en_US
dc.identifier.scopusauthoridDebre, M=7004912957en_US
dc.identifier.scopusauthoridFischer, A=36047665000en_US
dc.identifier.scopusauthoridGriscelli, C=7101836577en_US

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