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dc.contributor.authorMcKay, James D
dc.contributor.authorPatterson, B
dc.contributor.authorCraig, Jamie E
dc.contributor.authorRussell-Eggit, Isabelle M
dc.contributor.authorWirth, M Gabriela
dc.contributor.authorBurdon, Kathryn Penelope
dc.contributor.authorHewitt, Alex W
dc.contributor.authorCohn, Amy C
dc.contributor.authorKerdraon, Y
dc.contributor.authorMackey, David A
dc.date.accessioned2007-06-19
dc.date.available2007-06-19
dc.date.issued2005-07
dc.identifier.citationJ D McKay, B Patterson, JE Craig, IM Russell-Eggitt, MG Wirth, KP Burdon, AW Hewitt, AC Cohn, Y Kerdraon, DA Mackey. 2005. The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes. 'British Journal of Ophthalmology', Feb, Vol 89, No 7, 831-4en
dc.identifier.issn0007-1161
dc.identifier.urihttp://hdl.handle.net/2328/1591
dc.description.abstractAIMS: Multiple genetic causes of congenital cataract have been identified, both as a component of syndromes and in families that present with isolated congenital cataract. Linkage analysis was used to map the genetic locus in a six generation Australian family presenting with total congenital cataract. METHODS: Microsatellite markers located across all known autosomal dominant congenital cataract loci were genotyped in all recruited family members of the Tasmanian family. Both two point and multipoint linkage analysis were used to assess each locus under an autosomal dominant model. RESULTS: Significant linkage was detected at the telomere of the p arm of chromosome 1, with a maximum two point LOD of 4.21 at marker D1S507, a maximum multipoint exact LOD of 5.44, and an estimated location score of 5.61 at marker D1S507. Haplotype analysis places the gene inside a critical region between D1S228 and D1S199, a distance of approximately 6 megabases. The candidate gene PAX7 residing within the critical interval was excluded by direct sequencing in affected individuals. CONCLUSION: This is the third report of congenital cataract linkage to 1ptel. The critical region as defined by the shared haplotype in this family is clearly centromeric from the Volkmann cataract locus identified through study of a Danish family, indicating that two genes causing autosomal dominant congenital cataract map to the telomeric region of chromosome 1p.en
dc.format.extent146570 bytes
dc.format.mimetypeapplication/pdf
dc.language.isoen
dc.publisherBMJ Publishing Group - http://bjo.bmjjournals.com/en
dc.subjectAphakia, Postcataracten
dc.subjectCataracten
dc.subjectHomeodomain Proteinsen
dc.subjectHaplotypesen
dc.subjectLod Scoreen
dc.subjectMicrosatellite Repeatsen
dc.subjectPAX7 Transcription Factoren
dc.subjectStrabismusen
dc.subjectTelomereen
dc.titleThe telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes.en
dc.typeArticleen
dc.rights.licenseIn Copyright


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