From: Genetic Testing as a New Standard for Clinical Diagnosis of Color Vision Deficiencies
Trans. Vis. Sci. Tech.. 2016;5(5):2. doi:10.1167/tvst.5.5.2
Figure Legend:
MassArray results for the AREDs subject pool and the psychophysically-tested subject pool. The MassArray color vision
test uses two SNPs to characterize the composition of the L and M opsin gene array. The x-axis is the percentage of the
total X-linked opsin genes that have the “first gene” promoter allele estimated from the areas under the mass
spectrometer peaks for the first gene and down-stream gene promoter fragments. Example raw MassArray spectrometer
data are shown in Supplemental Figure S1. The y-axis is an estimate of the percentage of the total X-linked genes that
are L genes as measured by the relative areas under peaks in the MassArray spectrum for the SNP in codon 309. (A)
Illustration
of the7/12/2017
theoretical polar angles
corresponding
to different
numbers
of L genes, labeled
L = 0,
L = 0.5,
= 1, reserved.
L=
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2. Subjects with polar angles along the 0° line (L = 0) have protan color vision deficiencies. Most normal subjects, have