TY - JOUR A1 - McGuire, R E A1 - Jordan, S A A1 - Braden, V V A1 - Bouffard, G G A1 - Humphries, P A1 - Green, E D A1 - Daiger, S P T1 - Mapping the RP10 locus for autosomal dominant retinitis pigmentosa on 7q: refined genetic positioning and localization within a well-defined YAC contig. Y1 - 1996/04/01 JF - Genome Research JO - Genome Research SP - 255 EP - 266 DO - 10.1101/gr.6.4.255 VL - 6 IS - 4 UR - http://genome.cshlp.org/content/6/4/255.abstract N2 - Retinitis pigmentosa is a genetically heterogeneous disease that has autosomal dominant, autosomal recessive and X-linked forms. Autosomal dominant retinitis pigmentosa (adRP) has thus far been associated with eight distinct loci, including the rhodopsin and peripherin/RDS genes as well as unidentified genes on chromosomes 7p, 7q, 8q, 17p, 17q, and 19q. The RP10 locus for adRP on chromosome 7q was first mapped in a Spanish family; later, an unrelated American family was identified that also showed linkage to 7q. By combining the linkage results from both families, we are able to assign the disease gene to a 5-cM interval on 7q. Based on extensive physical mapping of this region, the genetic interval is now fully contained within a approximately 5-Mb segment on a well-defined YAC contig. These studies significantly reduce the size of the RP10 critical region, exclude a number of possible candidate genes, and provide the necessary cloned DNA for the positional cloning of the RP10 gene. ER -