Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity

G J Farrar, P McWilliam, D G Bradley, P Kenna, M Lawler, E M Sharp, M M Humphries, H Eiberg, P M Conneally, J A Trofatter, Mark Lawler

Research output: Contribution to journalArticlepeer-review

87 Citations (Scopus)


Retinitis pigmentosa (RP) is the most prevalent human retinopathy of genetic origin. Chromosomal locations for X-linked RP and autosomal dominant RP genes have recently been established. Multipoint analyses with ADRP and seven markers on the long arm of chromosome 3 demonstrate that the gene for rhodopsin, the pigment of the rod photoreceptors, cosegregates with the disease locus with a maximum lod score of approximately 19, implicating rhodopsin as a causative gene. Recent studies have indicated the presence of a point mutation at codon 23 in exon 1 of rhodopsin which results in the substitution of histidine for the highly conserved amino acid proline, suggesting that this mutation is a cause of rhodopsin-linked ADRP. This mutation is not present in the Irish pedigree in which ADRP has been mapped close to rhodopsin. Another mutation in the rhodopsin gene or in a gene closely linked to rhodopsin may be involved. Moreover, the gene in a second ADRP pedigree, with Type II late onset ADRP, does not segregate with chromosome 3q markers, indicating that nonallelic as well as perhaps allelic genetic heterogeneity exists in the autosomal dominant form of this disease.

Original languageEnglish
Pages (from-to)35-40
Number of pages6
Issue number1
Publication statusPublished - Sept 1990


  • Amino Acid Sequence
  • Base Sequence
  • Blotting, Southern
  • Chromosomes, Human, Pair 3
  • DNA
  • Data Interpretation, Statistical
  • Female
  • Gene Amplification
  • Genes, Dominant
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Polymerase Chain Reaction
  • Retinitis Pigmentosa
  • Rhodopsin


Dive into the research topics of 'Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity'. Together they form a unique fingerprint.

Cite this