Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22

Hum Genet. 1999 Jan;104(1):73-6. doi: 10.1007/s004390050912.

Abstract

Linkage analysis was performed on a large Dutch family with autosomal dominant retinitis pigmentosa. Linkage was found to the RP17 locus on chromosome 17q22, which was previously described in two South African families by Bardien et al. (1995, 1997). Assuming that the disease phenotypes in these families are caused by the same gene, the RP17 critical region is refined to a 7.7-cM interval between markers D17S1607 and D17S948. Two positional candidate genes, the retina-specific amine oxidase (RAO) gene (AOC2) and the cone transducin gamma gene (GNGT2), were excluded.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping / methods*
  • Chromosomes, Human, Pair 17 / genetics*
  • Female
  • Genes, Dominant / genetics*
  • Genetic Linkage
  • Genetic Markers
  • Haplotypes
  • Humans
  • Male
  • Pedigree
  • Phenotype
  • Recombination, Genetic
  • Retinitis Pigmentosa / genetics*

Substances

  • Genetic Markers