A bidirectional YAC walk from the Norrie disease (NDP) locus

• Published in: Genomics (San Diego, Calif.) Calif.), 1995-02, Vol.25 (3), p.644-649
• Main Authors: Black, Graeme C.M., Coleman, Michael P., Chen, Zheng-Yi, Nemeth, Andrea H., Davies, Kay E., Craig, Ian W.
• Format: Article
• Language: English
• Subjects: Base Sequence; Biological and medical sciences; Blindness - genetics; Cell Line; centromeres; Chromosome Walking; Chromosomes, Artificial, Yeast; DNA; eye diseases; gene mapping; Genetic Linkage; Humans; Malformations of the eye; man; Medical sciences; Molecular Sequence Data; Norrie's disease; Ophthalmology; Pseudogenes; Ribonucleoside Diphosphate Reductase - genetics; Translocation, Genetic; X Chromosome; yeast artificial chromosomes
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1016/0888-7543(95)80006-8

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 — DXS7 — 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.