Rhodopsin mutations in autosomal dominant retinitis pigmentosa

Proc Natl Acad Sci U S A. 1991 Aug 1;88(15):6481-5. doi: 10.1073/pnas.88.15.6481.

Abstract

DNA samples from 161 unrelated patients with autosomal dominant retinitis pigmentosa were screened for point mutations in the rhodopsin gene by using the polymerase chain reaction and denaturing gradient gel electrophoresis. Thirty-nine patients were found to carry 1 of 13 different point mutations at 12 amino acid positions. The presence or absence of the mutations correlated with the presence or absence of retinitis pigmentosa in 174 out of 179 individuals tested in 17 families. The mutations were absent from 118 control subjects with normal vision.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA / genetics*
  • DNA / isolation & purification
  • Female
  • Genes*
  • Genes, Dominant*
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Night Blindness / etiology
  • Night Blindness / genetics
  • Nucleic Acid Hybridization
  • Oligonucleotide Probes
  • Pedigree
  • Polymerase Chain Reaction
  • Retinitis Pigmentosa / genetics*
  • Rhodopsin / metabolism*
  • Visual Fields

Substances

  • Oligonucleotide Probes
  • DNA
  • Rhodopsin