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Article: Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis

TitleLocalization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis
Authors
Issue Date1988
PublisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Citation
American Journal Of Human Genetics, 1988, v. 43 n. 4, p. 484-494 How to Cite?
AbstractThe X-linked recessive type of retinitis pigmentosa (XLRP) causes progressive night blindness, visual field constriction, and eventual blindness in affected males by the third or fourth decade of life. The biochemical basis of the disease is unknown, and prenatal diagnosis and definitive carrier diagnosis remain elusive. Heterogeneity in XLRP has been suggested by linkage studies of families affected with XLRP and by phenotypic differences observed in female carriers. Localization of XLRP near Xp11.3 has been suggested by close linkage to an RFLP at the locus DXS7 (Xp11.3) detected by probe L1.28. In other studies a locus for XLRP with metallic sheen has been linked to the ornithine transcarbamylase (OTC) locus mapping to the Xp21 region. In this study, by linkage analysis using seven RFLP markers between Xp21 and Xcen, we examined four families with multiple affected individuals. Close linkage was found between XLRP and polymorphic sites OTC (θ = .06 with lod 5.69), DXS84 (θ = .05 with lod 4.08), and DXS206 (θ = .06 with lod 2.56), defined by probes OTC, 754, and XJ, respectively. The close linkage of OTC, 754, and XJ to XLRP localizes the XLRP locus to the Xp21 region. Data from recombinations in three of four families place the locus above L1.28 and below the Duchenne muscular dystrophy (DMD) gene, consistent with an Xp21 localization. In one family, however, one affected male revealed a crossover between XLRP and all DNA markers, except for the more distal DXS28 (C7), while his brother is recombined for this marker (C7) and not other, more proximal markers. This suggests that in this family the XLRP mutation maps near DXS28 and above the DMD locus.
Persistent Identifierhttp://hdl.handle.net/10722/42288
ISSN
2015 Impact Factor: 10.794
2015 SCImago Journal Rankings: 8.769
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorMusarella, MAen_HK
dc.contributor.authorBurghes, Aen_HK
dc.contributor.authorAnsonCartwright, Len_HK
dc.contributor.authorMahtani, MMen_HK
dc.contributor.authorArgonza, Ren_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorWorton, Ren_HK
dc.date.accessioned2007-01-08T02:33:46Z-
dc.date.available2007-01-08T02:33:46Z-
dc.date.issued1988en_HK
dc.identifier.citationAmerican Journal Of Human Genetics, 1988, v. 43 n. 4, p. 484-494en_HK
dc.identifier.issn0002-9297en_HK
dc.identifier.urihttp://hdl.handle.net/10722/42288-
dc.description.abstractThe X-linked recessive type of retinitis pigmentosa (XLRP) causes progressive night blindness, visual field constriction, and eventual blindness in affected males by the third or fourth decade of life. The biochemical basis of the disease is unknown, and prenatal diagnosis and definitive carrier diagnosis remain elusive. Heterogeneity in XLRP has been suggested by linkage studies of families affected with XLRP and by phenotypic differences observed in female carriers. Localization of XLRP near Xp11.3 has been suggested by close linkage to an RFLP at the locus DXS7 (Xp11.3) detected by probe L1.28. In other studies a locus for XLRP with metallic sheen has been linked to the ornithine transcarbamylase (OTC) locus mapping to the Xp21 region. In this study, by linkage analysis using seven RFLP markers between Xp21 and Xcen, we examined four families with multiple affected individuals. Close linkage was found between XLRP and polymorphic sites OTC (θ = .06 with lod 5.69), DXS84 (θ = .05 with lod 4.08), and DXS206 (θ = .06 with lod 2.56), defined by probes OTC, 754, and XJ, respectively. The close linkage of OTC, 754, and XJ to XLRP localizes the XLRP locus to the Xp21 region. Data from recombinations in three of four families place the locus above L1.28 and below the Duchenne muscular dystrophy (DMD) gene, consistent with an Xp21 localization. In one family, however, one affected male revealed a crossover between XLRP and all DNA markers, except for the more distal DXS28 (C7), while his brother is recombined for this marker (C7) and not other, more proximal markers. This suggests that in this family the XLRP mutation maps near DXS28 and above the DMD locus.en_HK
dc.format.extent1906950 bytes-
dc.format.extent30208 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypeapplication/msword-
dc.languageengen_HK
dc.publisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/en_HK
dc.relation.ispartofAmerican Journal of Human Geneticsen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.rightsAmerican journal of human genetics. Copyright © University of Chicago Press.en_HK
dc.subject.meshChromosome mappingen_HK
dc.subject.meshLinkage (genetics)en_HK
dc.subject.meshX chromosomeen_HK
dc.subject.meshPolymorphism, restriction fragment lengthen_HK
dc.subject.meshPedigreeen_HK
dc.titleLocalization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysisen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0002-9297&volume=43&issue=4&spage=484&epage=494&date=1988&atitle=Localization+of+the+gene+for+X-linked+recessive+type+of+retinitis+pigmentosa+(XLRP)+to+Xp21+by+linkage+analysisen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.pmid2902787-
dc.identifier.pmcidPMC1715496-
dc.identifier.scopuseid_2-s2.0-0023687513en_HK
dc.identifier.volume43en_HK
dc.identifier.issue4en_HK
dc.identifier.spage484en_HK
dc.identifier.epage494en_HK
dc.identifier.isiWOS:A1988Q473600016-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridMusarella, MA=7004613612en_HK
dc.identifier.scopusauthoridBurghes, A=7006115989en_HK
dc.identifier.scopusauthoridAnsonCartwright, L=6602615496en_HK
dc.identifier.scopusauthoridMahtani, MM=6601972652en_HK
dc.identifier.scopusauthoridArgonza, R=55399134100en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridWorton, R=7005506141en_HK

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