title: Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa.
abstract: In order to elucidate the genetic basis of autosomal dominant retinitis pigmentosa (adRP) in a large eight-generation family (UCLA-RP09) of British descent, we assessed linkage between the UCLA-RP09 adRP gene and numerous genetic loci, including eight adRP candidate genes, five anonymous adRP-linked DNA loci, and 20 phenotypic markers. Linkage to the UCLA-RP09 disease gene was excluded for all eight candidate genes analyzed, including rhodopsin (RP4) and peripherin/RDS (RP7), for the four adRP loci RP1, RP9, RP10 and RP11, as well as for 17 phenotypic markers. The anonymous DNA marker locus D17S938, linked to adRP locus RP13 on chromosome 17p13.1, yielded a suggestive but not statistically significant positive lod score. Linkage was confirmed between the UCLA-RP09 adRP gene and markers distal to D17S938 in the chromosomal region 17p13.3. A reanalysis of the original RP13 data from a South African adRP family of British descent, in conjunction with our UCLA-RP09 data, suggests that only one adRP locus exists on 17p but that it maps to a more telomeric position, at band 17p13.3, than previously reported. Confirmation of the involvement of RP13 in two presumably unrelated adRP families, both of British descent, suggests that this locus is a distinct adRP gene in a proportion of British, and possibly other, adRP families.
authors.affiliation: Vision Genetics Center, Jules Stein Eye Institute, UCLA School of Medicine, USA.
authors.forename: T L
authors.initials: TL
authors.lastname: Kojis
authors.forename: C
authors.initials: C
authors.lastname: Heinzmann
authors.forename: P
authors.initials: P
authors.lastname: Flodman
authors.forename: J T
authors.initials: JT
authors.lastname: Ngo
authors.forename: R S
authors.initials: RS
authors.lastname: Sparkes
authors.forename: M A
authors.initials: MA
authors.lastname: Spence
authors.forename: J B
authors.initials: JB
authors.lastname: Bateman
authors.forename: J R
authors.initials: JR
authors.lastname: Heckenlively
mesh_terms: D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: D005819:Genetic Markers