LONG-RANGE MAPPING AND CONSTRUCTION OF A YAC CONTIG WITHIN THE CAT EYE SYNDROME CRITICAL REGION

Cat eye syndrome (CES) is typically associated with a supernumerary bi satellited marker chromosome derived from human chromosome 22pter to 2 2q11.2. The region of 22q duplicated in the typical CES marker chromos ome extends between the centromere and locus D22S36. We have construct ed a long-range restriction map of this region using pulsed-field gel electrophoresis and probes to 10 loci (11 probes). The map covers simi lar to 3.6 Mb. We have also used 15 loci to construct a yeast artifici al chromosome contig, which encompasses about half of the region criti cal to the production of the CES phenotype (centromere to D22S57). Thu s, the CES critical region has been mapped and a substantial portion o f it cloned in preparation for the isolation of genes in this region.