Adelaide Research & Scholarship
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https://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 |
| Published version: | http://www.molvis.org/molvis/v14/a85/ |
| Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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