Genetic mapping of loci for X-linked retinitis pigmentosa

Clin Genet. 1991 Dec;40(6):435-40. doi: 10.1111/j.1399-0004.1991.tb03115.x.

Abstract

Linkage analysis was performed in three Swedish families segregating for X-linked retinitis pigmentosa (XLRP), using five polymorphic DNA markers assigned to Xp. Individual recombination events were analyzed and two- and five-point linkage analysis was undertaken. In one family, a XLRP locus was mapped to the same position as OTC corresponding to RP3. In two families, a disease locus linked to OTC was excluded. In one family, recombination events indicate a locus for XLRP outside the interval (DXS84-OTC-DXS255-DXS14), most likely on the centromeric side of DXS14.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • DNA / genetics
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Recombination, Genetic
  • Retinitis Pigmentosa / classification
  • Retinitis Pigmentosa / genetics*
  • X Chromosome*

Substances

  • Genetic Markers
  • DNA