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dc.contributor.authorCraig, J.en
dc.contributor.authorFriend, K.en
dc.contributor.authorGecz, J.en
dc.contributor.authorRattray, K.en
dc.contributor.authorTrotski, M.en
dc.contributor.authorMackey, D.en
dc.contributor.authorBurdon, K.en
dc.identifier.citationMolecular Vision, 2008; 14(85-86):721-726en
dc.description.abstractPurpose: This study aimed to map the genetic locus responsible for a novel X-linked congenital cataract phenotype. Methods: A large three-generation family with lamellar and nuclear cataract in five affected males was identified. Linkage analysis was conducted by genotyping X-chromosome specific microsatellite markers at an average spacing of 5 cM. Analysis was conducted using the LINKAGE package under an X-linked recessive model. Results: A linkage was detected on Xq24 with the maximum LOD score of 2.53 at θ=0 for DXS1001. The minimal region was defined as 11.5 Mb between markers DXS8055 and DXS8009 through critical recombination events in multiple individuals. Conclusions: A gene causing this novel congenital cataract phenotype is located on the long arm of the X chromosome.en
dc.description.statementofresponsibilityJamie E. Craig, Kathryn L. Friend, Jozef Gecz, Kate M Rattray, Mark Troski, David A. Mackey and Kathryn P. Burdonen
dc.publisherMolecular Visionen
dc.subjectChromosomes, Human, X; Tooth; Humans; Cataract; Genetic Diseases, X-Linked; Pedigree; Lod Score; Adolescent; Child, Preschool; Female; Male; Genes, X-Linkeden
dc.titleA novel locus for X-linked congenital cataract on Xq24en
dc.typeJournal articleen
pubs.library.collectionPaediatrics publicationsen
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

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