title: Color vision defects with variation in the exon 5 of red and green pigment genes.
abstract: OBJECTIVE
  To investigate correlation of variation in the exon 5 of red and green pigment genes with color vision defects.
  
  
  METHODS
  Exon 5 of the red and green pigment genes in 11 protans, 19 deutans and 38 normal controls were analyzed by heteroduplux-SSCP analysis.
  
  
  RESULTS
  In all 11 protans and 8 of the 19 deutans, defects of the red or green pigment gene could be identified. The C polymorphism (A/C at codon 283) in green pigment gene was present in 8 of 44 trichromats and 5 of 24 dichromats. Specific electrophoretic bands were found in 2 normal controls and a deutan.
  
  
  CONCLUSIONS
  Variation in the exon 5 of the red and green pigment genes is the most common cause for color vision defects. Heteroduplex-SSCP analysis is a suitable way in screening specific variation in visual pigment genes.
authors.affiliation: Zhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences, Guangzhou 510060, China.
authors.forename: H
authors.initials: H
authors.lastname: Shen
authors.forename: Q
authors.initials: Q
authors.lastname: Zhang
authors.forename: X
authors.initials: X
authors.lastname: Xiao
authors.forename: S
authors.initials: S
authors.lastname: Li
authors.forename: L
authors.initials: L
authors.lastname: Guo
authors.forename: F
authors.initials: F
authors.lastname: Jiang
mesh_terms: D041321:Chromosomes, Human, X / Q000235:genetics; D003118:Color Perception / Q000235:genetics*; D003117:Color Vision Defects / Q000235:genetics*; D005091:Exons; D017353:Gene Deletion; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008297:Male; D009692:Nucleic Acid Heteroduplexes; D018807:Polymorphism, Single-Stranded Conformational; D012168:Retinal Pigments / Q000235:genetics*
chemical_list: D009692:Nucleic Acid Heteroduplexes; D012168:Retinal Pigments