title: High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes.
abstract: The disease loci for X-linked Retinoschisis (RS), Keratosis follicularis spinulosa decalvans (KFSD), and Coffin-Lowry syndrome (CLS) have been localized to the same, small region in Xp22 on the human X Chromosome (Chr). To generate a high-resolution map of the available contig in this area, we have used the YAC fragmentation vectors pBP108/ADE2 and pBP109/ADE2 and generated fragmented YACs from a 2.5-Mb YAC (y939H7) spanning the mentioned disease gene candidate regions. Forty-seven fragmented YACs were generated and analyzed, ranging in size from 170 kb to over 2400 kb. The resulting YAC fragmentation panel was used to construct a detailed restriction map of the region and has been used to bin clones and markers. As a deletion panel, it will present a valuable resource for further mapping.
authors.affiliation: MGC-Department of Human Genetics, Leiden University, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands.
authors.forename: E
authors.initials: E
authors.lastname: Van de Vosse
authors.forename: P
authors.initials: P
authors.lastname: Van der Bent
authors.forename: J J
authors.initials: JJ
authors.lastname: Heus
authors.forename: G J
authors.initials: GJ
authors.lastname: Van Ommen
authors.forename: J T
authors.initials: JT
authors.lastname: Den Dunnen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D015139:Blotting, Southern; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002874:Chromosome Mapping / Q000379:methods*; D018244:Chromosomes, Artificial, Yeast; D003001:Cloning, Molecular; D003360:Cosmids; D053938:DNA Fragmentation; D007644:Darier Disease / Q000235:genetics*; D016521:Electrophoresis, Gel, Pulsed-Field; D005819:Genetic Markers; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D015183:Restriction Mapping; D012162:Retinal Degeneration / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome
chemical_list: D005819:Genetic Markers