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© 1995 Oxford University Press

OTHER

Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q

Rosemary E. Kelsell, Bernard F. Godley1, Kevin Evans, Peter A.C. Tiffin2, Cheryl Y. Gregory, Catherine Plant1, Anthony T. Moore3, Alan C. Bird and David M. Hunt*

Department of Molecular Genetics, Institute of Ophthalmology, University of London Bath Street, London EC1V 9EL 1Department of Clinical Ophthalmology, Moorfields Eye Hospital London 2Department of Ophthalmology, Ninewells Hospital Dundee DD2 s1UB 3Department of Ophthalmology, Addenbrooke's Hospital Hills Road, Cambridge, CB2 2QQ, UK

*To whom correspondence should be addressed

Received May 18, 1995; Revised June 21, 1995; Accepted June 21, 1995

Progressive bifocal chorioretinal atrophy (PBCRA) is a rare, autosomal dominant congenital chorioretinal dystrophy. We have performed genetic linkage analysis on a five-generation British Pedigree. Twopoint linkage analysis showed significant linkage with nine microsatellite marker loci mapping to chromosome 6q. Multipoint analysis gave a maximum lod score of 11. 8 ({theta} = 0. 05) between D6S249 and D6S283. This region overlaps with that to which the gene for North Carolina macular dystrophy (MCDR1) has been assigned. However, given the range of differences in phenotype between these two retinal disorders, it is likely that different mutation mechanisms are responsible for each disease.


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