eCite Digital Repository

A novel locus for X-linked congenital cataract on Xq24


Craig, JE and Friend, KL and Gecz, J and Rattray, KM and Troski, M and Mackey, DA and Burdon, KP, A novel locus for X-linked congenital cataract on Xq24, Molecular Vision, 14 pp. 721-726. ISSN 1090-0535 (2008) [Refereed Article]


Purpose 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

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Mackey, DA (Professor David Mackey)
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
ID Code:52919
Year Published:2008
Web of Science® Times Cited:12
Deposited By:Medicine
Deposited On:2008-10-10
Last Modified:2014-05-15

Repository Staff Only: item control page