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. Two-point 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.
Kelsell
R E
RE
Department of Molecular Genetics, University of London, UK.
Godley
B F
BF
Evans
K
K
Tiffin
P A
PA
Gregory
C Y
CY
Plant
C
C
Moore
A T
AT
Bird
A C
AC
Hunt
D M
DM
D001284:Atrophy; D001483:Base Sequence; D015862:Choroid Diseases / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D012162:Retinal Degeneration / Q000235:genetics* / Q000473:pathology
D009838:Oligodeoxyribonucleotides