Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning

Cytogenet Cell Genet. 1993;62(4):231-5. doi: 10.1159/000133484.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Blindness / genetics*
  • Cell Line
  • Chromosome Deletion*
  • Chromosome Mapping
  • Cloning, Molecular
  • DNA Probes*
  • Genetic Markers
  • Humans
  • Hybrid Cells
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Repetitive Sequences, Nucleic Acid
  • Restriction Mapping
  • Retina / abnormalities
  • Sequence Tagged Sites
  • X Chromosome*

Substances

  • DNA Probes
  • Genetic Markers