A novel locus for X-linked congenital cataract on Xq24

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 mic...

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Detalles Bibliográficos
Autores principales: Craig, Jamie E., Friend, Kathryn L., Gecz, Jozef, Rattray, Kate M, Troski, Mark, Mackey, David A., Burdon, Kathryn P.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2324122/
https://www.ncbi.nlm.nih.gov/pubmed/18431456
Descripción
Sumario: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.

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