title: Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.
abstract: Tritanopia is an autosomal dominant genetic disorder of human vision characterize 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.
authors.affiliation: Department of Molecular Biology, Johns Hopkins University School of Medicine, Baltimore 21205.
authors.forename: C J
authors.initials: CJ
authors.lastname: Weitz
authors.forename: Y
authors.initials: Y
authors.lastname: Miyake
authors.forename: K
authors.initials: K
authors.lastname: Shinzato
authors.forename: E
authors.initials: E
authors.lastname: Montag
authors.forename: E
authors.initials: E
authors.lastname: Zrenner
authors.forename: L N
authors.initials: LN
authors.lastname: Went
authors.forename: J
authors.initials: J
authors.lastname: Nathans
mesh_terms: D001120:Arginine / Q000235:genetics; D001483:Base Sequence; D016009:Chi-Square Distribution; D003001:Cloning, Molecular; D003117:Color Vision Defects / Q000235:genetics*; D004247:DNA / Q000032:analysis; D015342:DNA Probes; D016521:Electrophoresis, Gel, Pulsed-Field; D005136:Eye Proteins / Q000235:genetics*; D005799:Genes, Dominant; D005998:Glycine / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D021141:Nucleic Acid Amplification Techniques; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012168:Retinal Pigments / Q000235:genetics*; D017299:Rod Opsins
chemical_list: D015342:DNA Probes; D005136:Eye Proteins; D012168:Retinal Pigments; D017299:Rod Opsins; D004247:DNA; D001120:Arginine; D005998:Glycine