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

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 c...

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Bibliographic Details
Published in:Human molecular genetics 1995-09, Vol.4 (9), p.1653-1656
Main Authors: Kelsell, Rosemary E., Godley, Bernard F., Evans, Kevin, Tiffin, Peter A.C., Gregory, Cheryl Y., Plant, Catherine, Moore, Anthony T., Bird, Alan C., Hunt, David M.
Format: Article
Language:English
Subjects:
Atrophy
Base Sequence
Biological and medical sciences
Choroid Diseases - genetics
Choroid Diseases - pathology
Chromosome Mapping
Chromosomes, Human, Pair 6
Female
Genetic Linkage
Humans
Male
Medical sciences
Molecular Sequence Data
Oligodeoxyribonucleotides
Ophthalmology
Pedigree
Retinal Degeneration - genetics
Retinal Degeneration - pathology
Retinopathies
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Summary: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 (θ = 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.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/4.9.1653