Polymorphic variations in peripherin-RDS gene in the Spanish population

Ann Genet. 1995;38(4):225-7.

Abstract

The authors report a study of polymorphisms in the peripherin-RDS gene in 21 Spanish families affected with Autosomal Dominant Retinitis Pigmentosa and 56 unrelated normal individuals. We found 3 variants in first exon and nine variants in the third exon in an SSCP analysis, all corresponding to different previously described polymorphisms.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA Primers / chemistry
  • Eye Proteins / genetics*
  • Gene Frequency
  • Genes, Dominant
  • Heterozygote
  • Humans
  • Intermediate Filament Proteins / genetics*
  • Ireland
  • Membrane Glycoproteins*
  • Molecular Sequence Data
  • Nerve Tissue Proteins*
  • Peripherins
  • Polymorphism, Genetic
  • Polymorphism, Single-Stranded Conformational
  • Retinitis Pigmentosa / genetics*
  • Spain

Substances

  • DNA Primers
  • Eye Proteins
  • Intermediate Filament Proteins
  • Membrane Glycoproteins
  • Nerve Tissue Proteins
  • PRPH protein, human
  • PRPH2 protein, human
  • Peripherins