A two-step method for identifying photopigment opsin and rhodopsin gene sequences underlying human color vision phenotypes

• Published in: Molecular vision Vol. 26; pp. 158 - 172
• Main Authors: Atilano, Shari R, Kenney, M Cristina, Briscoe, Adriana D, Jameson, Kimberly A
• Format: Journal Article
• Language: English
• Published: United States Molecular Vision 2020
• Subjects: Adult; Aged, 80 and over; Codons; Color vision; Color Vision - genetics; Exons; Female; Genes; Genotype; Humans; Male; Middle Aged; Mutation; Opsins - genetics; Phenotype; Phenotypes; Polymerase chain reaction; Polymerase Chain Reaction - methods; Polymorphism, Single Nucleotide; Retina; Rhodopsin; Rhodopsin - blood; Rhodopsin - genetics; Rod Opsins - blood; Rod Opsins - genetics; Saliva; Sequence Analysis, DNA - methods; Single-nucleotide polymorphism; Trichromacy; Visual thresholds; Wavelength

To present a detailed, reliable long range-PCR and sequencing (LR-PCR-Seq) procedure to identify human opsin gene sequences for variations in the long wavelength-sensitive ( ), medium wavelength-sensitive ( ), short wavelength-sensitive ( ), and rhodopsin ( ) genes. Color vision was assessed for nin...