Molecular genetics of inherited variation in human color vision

Science. 1986 Apr 11;232(4747):203-10. doi: 10.1126/science.3485310.


The hypothesis that red-green "color blindness" is caused by alterations in the genes encoding red and green visual pigments has been tested and shown to be correct. Genomic DNA's from 25 males with various red-green color vision deficiencies were analyzed by Southern blot hybridization with the cloned red and green pigment genes as probes. The observed genotypes appear to result from unequal recombination or gene conversion (or both). Together with chromosome mapping experiments, these data identify each of the cloned human visual pigment genes.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Chromosome Mapping
  • Chromosomes, Human
  • Color
  • Color Perception* / physiology
  • Color Vision Defects / genetics
  • DNA / genetics
  • DNA / metabolism
  • Gene Frequency
  • Genes*
  • Genetic Variation
  • Genotype
  • Humans
  • Mice
  • Nucleic Acid Hybridization
  • Retinal Pigments / genetics
  • X Chromosome


  • Retinal Pigments
  • DNA