Evidence for nonallelic genetic heterogeneity in autosomal recessive retinitis pigmentosa

Genomics. 1992 Nov;14(3):811-2. doi: 10.1016/s0888-7543(05)80195-8.

Abstract

Recent evidence suggesting the involvement of mutant rhodopsin proteins in the pathogenesis of autosomal recessive retinitis pigmentosa has prompted us to investigate whether this form of the disease shows non-allelic genetic heterogeneity, as has previously been shown to be the case in autosomal dominant retinitis pigmentosa. The availability of a unique inbred Dutch pedigree has enabled us to address this question. We have used an intragenic polymorphism to exclude the possibility that a mutation in the rhodopsin gene is responsible for the disease in this patient population. These data provide evidence for the involvement of at least two loci in autosomal recessively inherited retinitis pigmentosa.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Consanguinity
  • DNA, Single-Stranded
  • Female
  • Genes, Recessive*
  • Humans
  • Intermediate Filament Proteins / genetics
  • Lod Score
  • Male
  • Membrane Glycoproteins*
  • Molecular Sequence Data
  • Nerve Tissue Proteins*
  • Pedigree
  • Peripherins
  • Retinitis Pigmentosa / genetics*
  • Rhodopsin / genetics*

Substances

  • DNA, Single-Stranded
  • Intermediate Filament Proteins
  • Membrane Glycoproteins
  • Nerve Tissue Proteins
  • Peripherins
  • Rhodopsin