Color vision defects with variation in the exon 5 of red and green pigment genes.
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.
Shen
H
H
Zhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences, Guangzhou 510060, China.
Zhang
Q
Q
Xiao
X
X
Li
S
S
Guo
L
L
Jiang
F
F
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*
D009692:Nucleic Acid Heteroduplexes; D012168:Retinal Pigments