Gene conversion between red and defective green opsin gene in blue cone monochromacy

Genomics. 1995 Sep 20;29(2):323-8. doi: 10.1006/geno.1995.9998.


Blue cone monochromacy is an X-linked condition in which the function of both the red pigment gene (RCP) and the green pigment gene (GCP) is impaired. Blue cone monochromacy can be due to a red/green gene array rearrangement existing of a single red/green hybrid gene and an inactivating C203R point mutation in GCP. We describe here a family with blue cone monochromacy due to the presence of the C203R mutation in both RCP and GCP. The flanking sequences of the C203R mutation in exon 4 of RCP were characteristic for GCP, indicating that this mutation was transferred from GCP into RCP by gene conversion.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Chromosome Mapping
  • Color Perception / genetics
  • Color Vision Defects / genetics*
  • DNA Primers
  • Female
  • Gene Conversion*
  • Genetic Linkage
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation
  • Polymerase Chain Reaction
  • Retinal Cone Photoreceptor Cells / physiopathology*
  • Rod Opsins / genetics*
  • X Chromosome*


  • DNA Primers
  • Rod Opsins
  • long-wavelength opsin
  • middle-wavelength opsin