A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p.
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.
Papaioannou
Myrto
M
Department of Molecular Genetics, Institute of Ophthalmology, UCL, 11-43 Bath Street, London, EC1V 9EL, UK.
Chakarova
Christina F
CF
Prescott
De Quincy C
DC
Waseem
Naushin
N
Theis
Thorsten
T
Lopez
Irma
I
Gill
Bhavdip
B
Koenekoop
Robert K
RK
Bhattacharya
Shomi S
SS
D017668:Age of Onset; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D008040:Genetic Linkage; D006801:Humans; D040582:Inheritance Patterns; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*