title: Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19.
abstract: We report the mapping of a sixth locus for autosomal dominant retinitis pigmentosa (adRP) to 19q13.4. After a total genome linkage search using over 300 markers in a single large pedigree, marker loci on the long arm of chromosome 19 showed significant linkage with the disease locus. Since the mapping information for the marker loci used in this study was derived from two different genome maps, we established genetic distances between relevant marker loci so that linkage information could be combined from both maps. A conventional three point analysis between the adRP phenotype and markers D19S180 and D19S214 gave a maximum lod score of 4.87. Combining data from these and other markers, we used the recently described multiple two point programme FASTMAP to simulate a multipoint analysis of the full data set. This gave a lod score of 5.34 in the interval between markers D19S180 and D19S214. Recently this laboratory has also reported the linkage of another form of retinal degeneration known as cone-rod dystrophy (CRD) to a genetically different set of markers from 19q. Linkage data presented here clearly supports the existence of two separate retinal genes in this part of the genome.
authors.affiliation: Department of Molecular Genetics, Institute of Ophthalmology, London, UK.
authors.forename: M
authors.initials: M
authors.lastname: al-Maghtheh
authors.forename: C F
authors.initials: CF
authors.lastname: Inglehearn
authors.forename: T J
authors.initials: TJ
authors.lastname: Keen
authors.forename: K
authors.initials: K
authors.lastname: Evans
authors.forename: A T
authors.initials: AT
authors.lastname: Moore
authors.forename: M
authors.initials: M
authors.lastname: Jay
authors.forename: A C
authors.initials: AC
authors.lastname: Bird
authors.forename: S S
authors.initials: SS
authors.lastname: Bhattacharya
mesh_terms: D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D012162:Retinal Degeneration / Q000145:classification / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics*