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Results for “Color Vision Defects”

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PubMed1996

Detection of congenital color vision defects using heteroduplex-SSCP analysis.

Gene deletion and hybrid gene formation result in congenital red and green color vision defects. The innumerable variations in these defects require the development of appropriate methods for detailed investigation. We used heteroduplex-single-strand conformation polymorphism (SSCP) analysis to detect the gene variations in subjects with congenital red and green color vision defects. For comparison, we also used polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) to detect these defects. In all 13 protan and 9 of the 15 deutan subjects, defects of the red or green pigment gene could be identified by either heteroduplex-SSCP or PCR-RFLP analysis. Through heteroduplex-SSCP analysis, sequence polymorphism was detected in exon 5 of the green pigment gene. One polymorphic sequence was present in 8 of 21 trichromats but in only one of 17 dichromats, showing a biased distribution. A specific variation was found in one protan by SSCP analysis. Heteroduplex-SSCP procedures are useful for objective clinical diagnostic testing and for further study of color vision variations because of their simplicity and reliability and because they provide more information.

Blotting, Southern↗
PubMed1999

[Analysis of fusion points in hybrid genes and gene deletion for congenital red-green color vision defects].

OBJECTIVE: To investigate gene deletion and the fusion points of hybrid genes in congenital red-green color vision defects. METHODS: Genomic DNA was collected from 11 protans, 19 deutans and 5 normal controls. Promoter and exons 2-5 of the red and green pigment genes in these subjects were analyzed by using PCR-Heteroduplex-SSCP analysis. The origin and component of each individual gene were determined by comparison with the patterns of known sequence of the red and green visual pigment genes. RESULTS: Fourteen out of the 30 patients with red-green color vision defects were found to have hybrid gene. The fusion points of the hybrid gene were located in exon 1-intron 1(4 cases), introns 2-3(5 cases) and intron 4 (5 cases). CONCLUSION: The fusion point of a hybrid gene may occur in exon 1-intron 1 and intron 4 as well as in introns 2-3(including exon 3).

Artificial Gene Fusion↗
PubMed1998

Color vision defects with variation in the exon 5 of red and green pigment genes.

PURPOSE: 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.

Chromosomes, Human, X↗
PubMed1989

[Theoretical patterns of the panel D-15 test in congenital dichromatic color vision defects].

In order to study the theoretical patterns of the panel D-15 test for congenital dichromatic color vision defects, the spectral reflectance for the 16 color caps of the panel D-15 test was measured with a spectro-photometer. Then, the chromaticity-coordinates of each color cap were calculated using the spectral distribution of standard illuminant C. The theoretical patterns of the panel D-15 test for dichromats were obtained based on the confusion lines. For this procedure, the slope of the line between the color cap and the convergence point on the CIE chromaticity diagram was obtained first. Then, the order of the arrangement was decided starting with the slope having the smallest cap number and continuing progressively. For the chromaticity coordinates of the convergence points the following values were used; x = 0.7465, y = 0.2535 for protanopia, x = 1.08, y = -0.08, x = 1.40, y = -0.40, and x = 1.70, y = -0.70 for deuteranopia, and x = 0.171, y = 0.000 for tritanopia. The results show a very clear similarity between the orientation axis obtained by simulation and the actual data. Therefore, it was confirmed that dichromats arrange the color caps in the order of the slope of the line between the color cap and the convergence point, when performing the panel D-15 test. Furthermore, it was suggested that the patterns of the panel D-15 test differ by the convergence points among dichromats even of the same type.

Color Perception↗