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A novel locus for X-linked congenital cataract on Xq24
Citation
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]
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
Item Details
| Item Type: | Refereed Article |
|---|---|
| Research Division: | Medical and Health Sciences |
| Research Group: | Ophthalmology and Optometry |
| Research Field: | Ophthalmology |
| Objective Division: | Health |
| Objective Group: | Clinical Health (Organs, Diseases and Abnormal Conditions) |
| Objective Field: | Hearing, Vision, Speech and Their Disorders |
| 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: | 11 |
| Deposited By: | Medicine |
| Deposited On: | 2008-10-10 |
| Last Modified: | 2014-05-15 |
| Downloads: | 0 |
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