[A protanomalous female whose genotype of red/green visual pigment genes was determined by molecular analysis of her family members].
OBJECTIVE
To determine X-linked red/green visual pigment gene arrays of a female proband with protan deficiency.


METHODS
We examined a brother and both parents as well as the proband. Severity, severe or mild form, of color vision deficiency was estimated with either failure or passing of the Farnsworth Panel D-15 test. Diagnosis of either anomalous trichromacy or dichromacy was performed using a Nagel Type I anomaloscope. Genotypes of red/green visual pigment genes were determined by quantitative polymerase chain reaction-single strand conformation polymorphism analysis.


RESULTS
Color vision tests revealed that the proband, her brother, her father, and her mother had protanomaly(mild form), protanopia, protanomaly(severe form), and normal color vision, respectively. In analysis of gene arrays, the brother had a red-green hybrid gene(R1G2, Ser 180) and three green visual pigment genes, while the father had a red-green hybrid gene(R4G5, Ser 180) and a green visual pigment gene.


CONCLUSIONS
It is impossible to directly determine each paternal or maternal X-linked red/green pigment gene array in the female proband. Molecular analysis of the family members revealed that the proband was a compound heterozygote for two R1 G2 and R4G5 hybrid genes encoding photopigments with different absorption maxima.
Hayashi
Takaaki
T
Department of Ophthalmology, Jikei University School of Medicine, Tokyo, Japan.
Omoto
Satoshi
S
Kubo
Akiko
A
Nishio
Yoshiteru
Y
Kitahara
Kenji
K
D041321:Chromosomes, Human, X / Q000235:genetics; D003117:Color Vision Defects / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012168:Retinal Pigments / Q000235:genetics*
D012168:Retinal Pigments