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

Journal article

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: Bergen, A; Wapenaar, M; Schuurman, E; Diergaarde, P; Lerach, H

• Publication status: Published
• Journal: Cytogenetics and cell genetics
• Volume: 62
• Issue: 4
• Pages: 231-235
• Publication date: 1993-01-01
• DOI: 10.1159/000133484
• EISSN: 1424-859X
• ISSN: 0301-0171
• Language: English
• Keywords: Chromosome Deletion; Cloning, Molecular; DNA Probes; Repetitive Sequences, Nucleic Acid; Molecular Sequence Data; Restriction Mapping; Polymerase Chain Reaction; Retina; Genetic Markers; Cell Line; Humans; Hybrid Cells; Base Sequence; Sequence Tagged Sites; Blindness; Chromosome Mapping; X Chromosome