title: Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes.
abstract: This group has previously reported the mapping of a novel locus for autosomal dominant retinitis pigmentosa (adRP) in a South African kindred to 17q. Using a new series of microsatellite markers in this study, twopoint and multipoint analysis provide evidence for the localization of the disease gene to the 17q22 region. In addition, a second South African adRP family is shown to be linked to this 17q22 locus. Disease-associated haplotypes constructed for both families and multipoint linkage analysis place the gene in the 10-cM interval between D17S1607 and D17S1874. Three candidate genes on 17q were investigated: PDEG, the gamma subunit of rod phosphodiesterase; TIMP2, tissue inhibitor of metalloproteinases-2; and PRKCA, protein kinase C alpha. Recombination events between the adRP locus and: (1) a single-stranded conformation polymorphism in PDEG; and (2) a restriction fragment length polymorphism in TIMP2 provided evidence for the exclusion of these candidate genes as being responsible for adRP in the South African kindred.
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: R
authors.initials: R
authors.lastname: Ramesar
authors.forename: S
authors.initials: S
authors.lastname: Bhattacharya
authors.forename: J
authors.initials: J
authors.lastname: Greenberg
mesh_terms: D015106:3',5'-Cyclic-GMP Phosphodiesterases / Q000235:genetics; D001483:Base Sequence; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007527:Isoenzymes / Q000235:genetics; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D011493:Protein Kinase C / Q000235:genetics; D051571:Protein Kinase C-alpha; D012174:Retinitis Pigmentosa / Q000235:genetics*; D019714:Tissue Inhibitor of Metalloproteinases / Q000235:genetics
chemical_list: D017931:DNA Primers; D007527:Isoenzymes; D019714:Tissue Inhibitor of Metalloproteinases; C496628:PRKCA protein, human; D011493:Protein Kinase C; D051571:Protein Kinase C-alpha; D015106:3',5'-Cyclic-GMP Phosphodiesterases; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; C517431:PDE6B protein, human