Article
Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS).
Ophthalmic genetics - 1 Jun 2004
Brooks Simon, Ebenezer Neil, Poopalasundaram Subathra, Maher Eamonn, Francis Peter, Moore Anthony, Hardcastle Alison
Abstract excerpt
The X-linked congenital cataract (CXN) locus has been mapped to a 3-cM (approximately 3.5 Mb) interval on chromosome Xp22.13, which is syntenic to the mouse cataract disease locus Xcat and encompasses the recently refined Nance-Horan syndrome (NHS) locus. A positional cloning strategy has been adopted to identify the causative gene. In an attempt to refine the CXN locus, seven microsatellites were analysed within...
Topics
- Carrier Proteins
- Cataract
- Chromosome Mapping
- Chromosome Segregation
- Chromosomes, Human, X
- Female
- Genetic Diseases, X-Linked
- Haplotypes
- Humans
- Intercellular Signaling Peptides and Proteins
- Male
- Membrane Proteins
- Microsatellite Repeats