title: Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning.
abstract: Differential Alu PCR fingerprint cloning was used to isolate a DNA probe from the Xp11.4-->p11.21 region of the human X chromosome. This novel sequence, cpXr318 (DXS742), detects a new submicroscopic deletion interval at the Norrie disease locus (NDP). Combining our data with the consensus genetic map of the proximal short arm of the X chromosome, we propose the physical order Xcen-DXS14-DXS255-(DXS426, TIMP)-(DXS742-([MAOB-MAOA-DXS7], NDP)-DXS77-DXS228)-DXS209-DXS148-DXS196-++ +Xpter. The cpXr318 probe and a subclone from a cosmid corresponding to the DXS7 locus were converted into sequence-tagged sites. Finally, DXS742, DSX7, DXS77, and MAOA were integrated into a physical map spanning the Norrie disease locus.
authors.affiliation: The Netherlands Ophthalmic Research Institute, Amsterdam.
authors.forename: A A
authors.initials: AA
authors.lastname: Bergen
authors.forename: M C
authors.initials: MC
authors.lastname: Wapenaar
authors.forename: E J
authors.initials: EJ
authors.lastname: Schuurman
authors.forename: P J
authors.initials: PJ
authors.lastname: Diergaarde
authors.forename: H
authors.initials: H
authors.lastname: Lerach
authors.forename: A P
authors.initials: AP
authors.lastname: Monaco
authors.forename: E
authors.initials: E
authors.lastname: Bakker
authors.forename: E M
authors.initials: EM
authors.lastname: Bleeker-Wagemakers
authors.forename: G J
authors.initials: GJ
authors.lastname: van Ommen
mesh_terms: D001483:Base Sequence; D001766:Blindness / Q000235:genetics*; D002460:Cell Line; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D015342:DNA Probes; D005819:Genetic Markers; D006801:Humans; D006822:Hybrid Cells; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012091:Repetitive Sequences, Nucleic Acid; D015183:Restriction Mapping; D012160:Retina / Q000002:abnormalities; D016324:Sequence Tagged Sites; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D005819:Genetic Markers