title: Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin.
abstract: The RP17 locus for autosomal dominant retinitis pigmentosa has previously been mapped to chromosome 17q by linkage analysis. Two unrelated South African families are linked to this locus and the identification of key recombination events assigned the RP17 locus to a 10 cM interval on 17q22. The work reported here refines the mapping of the locus from a 10 cM to a 1 cM interval between the microsatellite markers D17S1604 and D17S948. A physical map of this interval was constructed using information from the Whitehead/MIT YAC contig WC 17.8. Sequence-tagged site (STS) content mapping of seven overlapping YACs from this contig was employed in order to build the map. A BAC library was screened to cover a gap in the YAC contig and two positive BACs were identified. Intragenic polymorphisms in the retinal fascin gene provided evidence for the exclusion of this candidate as the RP17 disease gene.
authors.affiliation: Department of Human Genetics, University of Cape Town, South Africa.
authors.forename: S
authors.initials: S
authors.lastname: Bardien-Kruger
authors.forename: J
authors.initials: J
authors.lastname: Greenberg
authors.forename: B
authors.initials: B
authors.lastname: Tubb
authors.forename: J
authors.initials: J
authors.lastname: Bryan
authors.forename: L
authors.initials: L
authors.lastname: Queimado
authors.forename: M
authors.initials: M
authors.lastname: Lovett
authors.forename: R S
authors.initials: RS
authors.lastname: Ramesar
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D018244:Chromosomes, Artificial, Yeast; D002886:Chromosomes, Human, Pair 17; D020451:Contig Mapping; D005260:Female; D006801:Humans; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D008840:Microfilament Proteins; C020324:fascin