Cytogenetics and Cell Genetics · 2008 · 15 citations · 0 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsGenomicsMedical GeneticsChromosomal AbnormalitiesChromosome MappingGenetic DisordersGenetic MappingNumerical Chromosome AbnormalitiesPolymerase Chain ReactionGenetic Map ConstructionGenomic Deletion DetectionMolecular Cytogenetic DiagnosisNorrie DiseaseSequence-tagged Site MappingSequence-tagged Site MarkersX Chromosome DetectionX Chromosome Structure
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.