title: High-resolution physical map of the X-linked retinoschisis interval in Xp22.
abstract: X-linked retinoschisis (RS) is the leading cause of macular degeneration in young males and has been mapped to Xp22 between DXS418 and DXS999. To facilitate identification of the RS gene, we have constructed a yeast artificial chromosome (YAC) contig across this region comprising 28 YACs and 32 sequence-tagged sites including seven novel end clone markers. To establish the definitive marker order, a PAC contig containing 50 clones was also constructed, and all clones were fingerprinted. The marker order is: Xpter-DXS1317-(AFM205yd12-DXS7175-DXS7992) -60N8-T7-DXS1195-DXS7993-DXS7174 -60N8-SP6-DXS418-DXS7994-DXS7995-DXS7996-+ ++HYAT2-25HA10R-HYAT1-DXS7997-DXS7998- DXS257-434E8R-3542R-DXS6762-DXS7999-DXS 6763-434E8L-DXS8000-DXS6760-DXS7176- DXS8001-DXS999-3176R-PHKA2-Xcen. A long-range restriction map was constructed, and the RS region is estimated to be 1300 kb, containing three putative CpG islands. An unstable region was identified between DXS6763 and 434E8L. These data will facilitate positional cloning of RS and other disease genes in Xp22.
authors.affiliation: Department of Pathology, University of Cambridge, Addenbrooke's Hospital, United Kingdom.
authors.forename: S M
authors.initials: SM
authors.lastname: Walpole
authors.forename: A
authors.initials: A
authors.lastname: Nicolaou
authors.forename: G R
authors.initials: GR
authors.lastname: Howell
authors.forename: A
authors.initials: A
authors.lastname: Whittaker
authors.forename: D R
authors.initials: DR
authors.lastname: Bentley
authors.forename: M T
authors.initials: MT
authors.lastname: Ross
authors.forename: J R
authors.initials: JR
authors.lastname: Yates
authors.forename: D
authors.initials: D
authors.lastname: Trump
mesh_terms: D002874:Chromosome Mapping / Q000379:methods; D018244:Chromosomes, Artificial, Yeast; D003001:Cloning, Molecular; D016172:DNA Fingerprinting; D008040:Genetic Linkage; D005819:Genetic Markers; D015698:Genomic Library; D006801:Humans; D015183:Restriction Mapping / Q000379:methods; D012162:Retinal Degeneration / Q000235:genetics*; D016324:Sequence Tagged Sites; D014960:X Chromosome
chemical_list: D005819:Genetic Markers