Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/53875
Type: Journal article
Title: A novel locus for X-linked congenital cataract on Xq24
Author: Craig, J.
Friend, K.
Gecz, J.
Rattray, K.
Trotski, M.
Mackey, D.
Burdon, K.
Citation: Molecular Vision, 2008; 14(85-86):721-726
Publisher: Molecular Vision
Issue Date: 2008
ISSN: 1090-0535
1090-0535
Statement of
Responsibility: 
Jamie E. Craig, Kathryn L. Friend, Jozef Gecz, Kate M Rattray, Mark Troski, David A. Mackey and Kathryn P. Burdon
Abstract: 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.
Keywords: Chromosomes, Human, X; Tooth; Humans; Cataract; Genetic Diseases, X-Linked; Pedigree; Lod Score; Adolescent; Child, Preschool; Female; Male; Genes, X-Linked
RMID: 0020081346
Published version: http://www.molvis.org/molvis/v14/a85/
Appears in Collections:Paediatrics publications

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