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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.


Journal article



Publication Date





644 - 649


Base Sequence, Blindness, Cell Line, Chromosome Walking, Chromosomes, Artificial, Yeast, DNA, Genetic Linkage, Humans, Molecular Sequence Data, Pseudogenes, Ribonucleoside Diphosphate Reductase, Translocation, Genetic, X Chromosome