Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS).
作者： Simon Brooks , Neil Ebenezer , Subathra Poopalasundaram , Eamonn Maher , Peter Francis
DOI: 10.1080/13816810490514360
关键词:
摘要: 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 the mouse disease Xcat and encompasses recently refined Nance-Horan syndrome (NHS) locus. A positional cloning strategy adopted identify causative gene. In an attempt refine CXN locus, seven microsatellites were analysed within 21 individuals of family. Haplotypes reconstructed confirming segregation with markers Xp22.13. addition, proximal cross-over was observed between S3 S4, thereby refining by approximately 400 Kb 3.2 Mb, flanked DXS9902 S4. Two known genes (RAI2 RBBP7) novel gene (TL1) screened for mutations affected male from family NHS direct sequencing coding exons intron- exon splice sites. No or polymorphisms identified, therefore excluding them as disease-causative in NHS. conclusion, successfully excludes PPEF1 candidate further three candidates excluded based sequence analysis. Future efforts will focus region overlap CXN, Xcat,
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