Documentation scienceplus.abes.fr version Bêta

À propos de : Characterization of a YAC containing part or all of the Norrie disease locus        

AttributsValeurs
type
Is Part Of
Subject
Title
  • Characterization of a YAC containing part or all of the Norrie disease locus
has manifestation of work
related by
Author
Abstract
  • It has been shown from pulsed-field gel electrophoresis (PFGE) that the monoamine oxidase genes A and B (MAOA & MAOB) and DXS7 loci are physically very close. We have therefore extended studies on their relationship through the characterisation of a 650 kb YAC isolated using L1.28 (recognising the DXS7 locus) as a probe. Restriction mapping of the YAC indicates that it contains both MAOA and MAOB genes in addition to the DXS7 locus. The map derived from the YL1.28-YAC is compatible both with the map from an independently derived YAC carrying MAOA and B genes and with the long range genomic map for the region. A series of subclones prepared from a 'phage library (lambda DASH II) of the YAC have been characterised and have been employed to determine the end point of the deletion of a Norrie disease (NDP) patient who has been shown to lack both DXS7 and MAO coding sequences. The pattern of retention of subclones in the deletion patient place the end point of the deletion within 30-130 kb of the proximal end of the YAC. By combining the data with established recombination analysis, we provide evidence that all or part of the NDP lies in the interval of approximately 250kb within the YAC.
article type
publisher identifier
  • 1.3.161
is part of this journal



Alternative Linked Data Documents: ODE     Content Formats:       RDF       ODATA       Microdata