Human tritanopia associated with two amino acid substitutions in the blue- sensitive opsin

C. J. Weitz, Y. Miyake, K. Shinzato, E. Montag, E. Zrenner, L. N. Went, J. Nathans

Research output: Contribution to journalArticlepeer-review

Abstract

Tritanopia is an autosomal dominant genetic disorder of human vision characterized by a selective deficiency of blue spectral sensitivity. The defect is manifested within the retina and could be caused by a deficiency in function or numbers (or both) of blue-sensitive cone photoreceptors. We have used PCR, denaturing gradient gel electrophoresis, and DNA sequencing of amplified exons to detect in four of nine unrelated tritanopic subjects two different point mutations in the gene encoding the blue-sensitive opsin, each leading to an amino acid substitution. Segregation analysis within pedigrees and hybridization of oligonucleotides specific for each allele to DNA samples from control subjects support the hypothesis that these mutations cause tritanopia. These results complete the genetic evidence for the trichromatic theory of human color vision.

Original languageEnglish (US)
Pages (from-to)498-507
Number of pages10
JournalAmerican journal of human genetics
Volume50
Issue number3
StatePublished - Jan 1 1992

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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