[Visual pigment genes for color vision defects].
Applying recombinant DNA techniques, the structures of red pigment gene (RPG) and green pigment gene (GPG) were analyzed for 43 patients with protan or deutan (including 3 females), 4 normal relatives and 3 carriers out of 3 families, as well as 11 normal controls. Abnormality of RPG was detected in all 19 protan and that of GPG was found in 14 out of 24 deutan. In about 80% (32/40) of protan and deutan the changing of exon 5 for RPG or GPG was discovered. In protan the normal RPG was replaced by a 5' red -3' green hybrid gene. Some of the deutan had no GPG, some had 5' green -3' red hybrid gene with or without GPG. Furthermore, the exon 5 of RPG and GPG was amplified by polymerase chain reaction (PCR) and further analyzed by Rsa I digestion. The results for PCR are identical to that of Southern blot hybridization.
Zhang
Q
Q
Zhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences, Guangzhou, China.
Mao
W
W
Ma
Q
Q
Zeng
R
R
Wu
L
L
Wu
D
D
Chen
Y
Y
D002872:Chromosome Deletion; D003117:Color Vision Defects / Q000235:genetics*; D015342:DNA Probes; D005091:Exons; D005260:Female; D005796:Genes; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D012168:Retinal Pigments / Q000235:genetics*; D014960:X Chromosome
D015342:DNA Probes; D012168:Retinal Pigments