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Hum Genet. 2005 Dec;118(3-4):501-3. Epub 2005 Sep 28.

A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p.

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  • 1Department of Molecular Genetics, Institute of Ophthalmology, UCL, 11-43 Bath Street, London, EC1V 9EL, UK.


Retinitis pigmentosa (RP) is a debilitating disease of the retina affecting approximately 1.5 million people worldwide. RP shows remarkable heterogeneity both clinically and genetically, with more than 40 genetic loci implicated, 12 of which account for the autosomal dominant form (adRP) of inheritance. We have recently identified a French Canadian family that presents with early onset adRP. After exclusion of all known loci for adRP, a genome-wide search established firm linkage with a marker from the short arm of chromosome 9 (LOD score of 6.3 at recombination fraction theta=0). The linked region is flanked by markers D9S285 and D9S1874, corresponding to a genetic distance of 31 cM, in the region 9p22-p13.

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