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|Title:||A novel locus for X-linked congenital cataract on Xq24|
|Citation:||Molecular Vision, 2008; 14(85-86):721-726|
|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|
|Appears in Collections:||Paediatrics publications|
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