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Article: Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA)

TitleClose linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA)
Authors
Malcolm, SDe Saint Basile, GArveiler, BLau, YLSzabo, PFischer, AGriscelli, CDebre, MMandel, JLCallard, RERobertson, MEGoodship, JAPembrey, MELevinsky, RJ
Issue Date1987
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Citation
Human Genetics, 1987, v. 77 n. 2, p. 172-174 How to Cite?
DOI: http://dx.doi.org/10.1007/BF00272387
AbstractLinkage analysis of 15 families affected by X-linked agammaglobulinaemia (XLA) showed close linkage with three probes located towards the centre of the long arm of the X chromosome. No cross-overs were found using pXG12 (DXS94) lod 6.6 or S21 (DXS17) lod 4.4. One cross-over was found with 19.2 (DXS3). This confirms and extends a previous linkage study (Kwan et al. 1986) which demonstrated linkage with S21 and 19.2. Of the families 14 were informative for either pXG12 or S21 and these probes should thus be of great diagnostic value. No evidence of heterogeneity was found in the XLA families but several cross-overs within this region were detected in a family with the X-linked hyper-IgM syndrome confirming this disease as a separate clinical entity.
Persistent Identifierhttp://hdl.handle.net/10722/170223
ISSN
0340-6717
2023 Impact Factor: 3.8
2023 SCImago Journal Rankings: 2.049
ISI Accession Number ID
WOS:A1987K350500016

 

DC FieldValueLanguage
dc.contributor.authorMalcolm, Sen_US
dc.contributor.authorDe Saint Basile, Gen_US
dc.contributor.authorArveiler, Ben_US
dc.contributor.authorLau, YLen_US
dc.contributor.authorSzabo, Pen_US
dc.contributor.authorFischer, Aen_US
dc.contributor.authorGriscelli, Cen_US
dc.contributor.authorDebre, Men_US
dc.contributor.authorMandel, JLen_US
dc.contributor.authorCallard, REen_US
dc.contributor.authorRobertson, MEen_US
dc.contributor.authorGoodship, JAen_US
dc.contributor.authorPembrey, MEen_US
dc.contributor.authorLevinsky, RJen_US
dc.date.accessioned2012-10-30T06:06:48Z-
dc.date.available2012-10-30T06:06:48Z-
dc.date.issued1987en_US
dc.identifier.citationHuman Genetics, 1987, v. 77 n. 2, p. 172-174en_US
dc.identifier.issn0340-6717en_US
dc.identifier.urihttp://hdl.handle.net/10722/170223-
dc.description.abstractLinkage analysis of 15 families affected by X-linked agammaglobulinaemia (XLA) showed close linkage with three probes located towards the centre of the long arm of the X chromosome. No cross-overs were found using pXG12 (DXS94) lod 6.6 or S21 (DXS17) lod 4.4. One cross-over was found with 19.2 (DXS3). This confirms and extends a previous linkage study (Kwan et al. 1986) which demonstrated linkage with S21 and 19.2. Of the families 14 were informative for either pXG12 or S21 and these probes should thus be of great diagnostic value. No evidence of heterogeneity was found in the XLA families but several cross-overs within this region were detected in a family with the X-linked hyper-IgM syndrome confirming this disease as a separate clinical entity.en_US
dc.languageengen_US
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htmen_US
dc.relation.ispartofHuman Geneticsen_US
dc.subject.meshAgammaglobulinemia - Geneticsen_US
dc.subject.meshChromosome Mappingen_US
dc.subject.meshDna - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic Linkageen_US
dc.subject.meshGenetic Markersen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPolymorphism, Geneticen_US
dc.subject.meshPolymorphism, Restriction Fragment Lengthen_US
dc.subject.meshX Chromosomeen_US
dc.titleClose linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA)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.doi10.1007/BF00272387-
dc.identifier.pmid2888720-
dc.identifier.scopuseid_2-s2.0-0023629483en_US
dc.identifier.volume77en_US
dc.identifier.issue2en_US
dc.identifier.spage172en_US
dc.identifier.epage174en_US
dc.identifier.isiWOS:A1987K350500016-
dc.publisher.placeGermanyen_US
dc.identifier.scopusauthoridMalcolm, S=7101923907en_US
dc.identifier.scopusauthoridDe Saint Basile, G=7006625059en_US
dc.identifier.scopusauthoridArveiler, B=7003834660en_US
dc.identifier.scopusauthoridLau, YL=7201403380en_US
dc.identifier.scopusauthoridSzabo, P=55188956500en_US
dc.identifier.scopusauthoridFischer, A=36047665000en_US
dc.identifier.scopusauthoridGriscelli, C=7101836577en_US
dc.identifier.scopusauthoridDebre, M=7004912957en_US
dc.identifier.scopusauthoridMandel, JL=7202545042en_US
dc.identifier.scopusauthoridCallard, RE=7005116699en_US
dc.identifier.scopusauthoridRobertson, ME=8067351300en_US
dc.identifier.scopusauthoridGoodship, JA=7005401296en_US
dc.identifier.scopusauthoridPembrey, ME=7006415948en_US
dc.identifier.scopusauthoridLevinsky, RJ=7006539367en_US
dc.identifier.issnl0340-6717-

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