Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree

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dc.contributor.authorKitsos, G.en
dc.contributor.authorEiberg, H.en
dc.contributor.authorEconomou-Petersen, E.en
dc.contributor.authorWirtz, M. K.en
dc.contributor.authorKramer, P. L.en
dc.contributor.authorAspiotis, M.en
dc.contributor.authorTommerup, N.en
dc.contributor.authorPetersen, M. B.en
dc.contributor.authorPsilas, K.en
dc.date.accessioned2015-11-24T19:14:56Z
dc.date.available2015-11-24T19:14:56Z
dc.identifier.issn1018-4813-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/21419
dc.rightsDefault Licence-
dc.subjectAdulten
dc.subjectAge Factorsen
dc.subjectAgeden
dc.subjectChromosomes, Human, Pair 1en
dc.subject*Chromosomes, Human, Pair 3en
dc.subjectCytoskeletal Proteinsen
dc.subjectEye Proteins/geneticsen
dc.subjectFamily Healthen
dc.subjectFemaleen
dc.subject*Genes, Dominanten
dc.subject*Genetic Linkageen
dc.subjectGlaucoma/*geneticsen
dc.subjectGlaucoma, Open-Angle/*geneticsen
dc.subjectGlycoproteins/geneticsen
dc.subjectGreeceen
dc.subjectHumansen
dc.subjectLod Scoreen
dc.subjectMaleen
dc.subjectMiddle Ageden
dc.subjectModels, Geneticen
dc.subjectPedigreeen
dc.subjectPolymorphism, Geneticen
dc.titleGenetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigreeen
heal.abstractA locus for juvenile onset open angle glaucoma (OAG) has been assigned to chromosome 1q in families with autosomal dominant inheritance (GLC1A), due to mutations in the TIGR/MYOC gene. For adult onset OAG, called primary open angle glaucoma or POAG, five loci have so far been mapped to different chromosomes (GLC1B-GLC1F). Except for the GLC1B locus, the other POAG loci have so far been reported only in single large pedigrees. We studied a large family identified in Epirus, Greece, segregating POAG in an autosomal dominant fashion. Clinical findings included increased cup to disc ratio (mean 0.7), characteristic glaucomatous changes in the visual field, and intraocular pressure before treatment more than 21 mmHg (mean 31 mmHg), with age at diagnosis 33 years and older. Linkage analysis was performed between the disease phenotype and microsatellite DNA polymorphisms. Linkage was established with a group of DNA markers located on chromosome 3q, where the GLC1C locus has previously been described in one large Oregon pedigree. A maximal multipoint lod score of 3.88 was obtained at marker D3S1763 (penetrance 80%). This represents the second POAG family linked to the GLC1C locus on chromosome 3q, and haplotype analysis in the two families suggests an independent origin of the genetic defect.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.primary10.1038/sj.ejhg.5200645-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/11436127-
heal.identifier.secondaryhttp://www.nature.com/ejhg/journal/v9/n6/pdf/5200645a.pdf-
heal.journalNameEur J Hum Geneten
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate2001-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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