title: An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q.
abstract: Retinitis pigmentosa is one of the most common causes of severe visual handicap in middle to late life. Prior to this report, seven loci had previously been mapped for the autosomal dominant form of this disorder (adRP). We now report the identification of a novel adRP locus on chromosome 17q. To map the new locus, we performed linkage analysis with microsatellite markers in a large South African kindred. After exclusion of 13 RP candidate gene loci (including rhodopsin and peripherin-RDS), we obtained significant positive lod scores at zero recombination fraction (theta = 0) for D17S808 (Z = 4.63) and D17S807 (Z = 5.69). Multipoint analysis gave a maximum lod score of 8.28 between these two markers. From haplotype analysis, the disease locus lies in the interval between markers D17S809 and D17S942. Three candidate genes for retinal dystrophies map to this chromosomal region and these genes are currently being investigated for possible involvement with adRP in this family.
authors.affiliation: Department of Human Genetics, University of Cape Town Medical School, Observatory, South Africa.
authors.forename: S
authors.initials: S
authors.lastname: Bardien
authors.forename: N
authors.initials: N
authors.lastname: Ebenezer
authors.forename: J
authors.initials: J
authors.lastname: Greenberg
authors.forename: C F
authors.initials: CF
authors.lastname: Inglehearn
authors.forename: L
authors.initials: L
authors.lastname: Bartmann
authors.forename: R
authors.initials: R
authors.lastname: Goliath
authors.forename: P
authors.initials: P
authors.lastname: Beighton
authors.forename: R
authors.initials: R
authors.lastname: Ramesar
authors.forename: S S
authors.initials: SS
authors.lastname: Bhattacharya
mesh_terms: D000328:Adult; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*