title: A bidirectional YAC walk from the Norrie disease (NDP) locus.
abstract: The region of Xp between DXS7 and the centromere contains the gene for Norrie disease in addition to the genes for several other ophthalmic disorders. A 650-kb YAC containing the loci MAOA, MAOB, and NDP has been used as the starting point for a bidirectional chromosomal walk. A contig of 16 YACs covering between 2 and 3 Mb has been developed in which the following markers/genes are located (in physical order): Xpter--DXS1201 (256ze5)--DXS6668--DXS228--DXS77--MAOA--++ +MAOB--FR12 (pseudogene)--NDP--DXS6670--RRM2P3--DXS6671--DXS742 --Xcen. Seven new STSs are described both for end clones and for internal Alu PCR products from the contig. The contig contains the breakpoint of the t75-2ma-1b (t75) translocation, close to the 5' end of the MAOB gene.
authors.affiliation: Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, United Kingdom.
authors.forename: G C
authors.initials: GC
authors.lastname: Black
authors.forename: M P
authors.initials: MP
authors.lastname: Coleman
authors.forename: Z Y
authors.initials: ZY
authors.lastname: Chen
authors.forename: A H
authors.initials: AH
authors.lastname: Nemeth
authors.forename: K E
authors.initials: KE
authors.lastname: Davies
authors.forename: I W
authors.initials: IW
authors.lastname: Craig
mesh_terms: D001483:Base Sequence; D001766:Blindness / Q000235:genetics*; D002460:Cell Line; D016386:Chromosome Walking; D018244:Chromosomes, Artificial, Yeast; D004247:DNA; D008040:Genetic Linkage; D006801:Humans; D008969:Molecular Sequence Data; D011544:Pseudogenes; D012262:Ribonucleoside Diphosphate Reductase / Q000235:genetics; D014178:Translocation, Genetic; D014960:X Chromosome
chemical_list: D004247:DNA; C093713:ribonucleotide reductase M2; D012262:Ribonucleoside Diphosphate Reductase