Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree

Genomics. 1992 Nov;14(3):805-7. doi: 10.1016/s0888-7543(05)80193-4.

Abstract

Using single-strand conformation polymorphism electrophoresis, heteroduplex analysis, and direct sequencing, we have searched for possible disease-causing mutations in the adRP family in which we originally found tight linkage of the disease to 6p. We have now identified a single base change in exon 2, which results in the replacement of a serine residue at codon 212 for a glycine residue. The mutation cosegregates with the disease with a lod score of 12.1 at theta = 0.0.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromosomes, Human, Pair 6*
  • DNA, Single-Stranded
  • Genes, Dominant*
  • Genetic Linkage
  • Humans
  • Intermediate Filament Proteins / genetics*
  • Membrane Glycoproteins*
  • Molecular Sequence Data
  • Mutation*
  • Nerve Tissue Proteins*
  • Pedigree
  • Peripherins
  • Retinitis Pigmentosa / genetics*
  • Rhodopsin / genetics*

Substances

  • DNA, Single-Stranded
  • Intermediate Filament Proteins
  • Membrane Glycoproteins
  • Nerve Tissue Proteins
  • PRPH protein, human
  • PRPH2 protein, human
  • Peripherins
  • Rhodopsin