1. Detection of female carriers of congenital color-vision deficiencies by visual pigment gene analysis
- Author
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Sanae Oda, Shoko Tanabe, Yuki Tanaka, Hisao Ueyama, Shinichi Yamade, and Kazutaka Kani
- Subjects
Male ,Heterozygote ,X Chromosome ,genetic structures ,Color vision deficiencies ,Color Vision Defects ,Biology ,Polymerase Chain Reaction ,law.invention ,Cellular and Molecular Neuroscience ,Exon ,Pigment ,law ,Polymorphism (computer science) ,Humans ,Gene ,Polymorphism, Single-Stranded Conformational ,Polymerase chain reaction ,DNA Primers ,Genetics ,Genetic Carrier Screening ,Rod Opsins ,Single-strand conformation polymorphism ,Heterozygote advantage ,DNA ,Exons ,Sensory Systems ,Pedigree ,Ophthalmology ,visual_art ,visual_art.visual_art_medium ,Female ,Color Perception - Abstract
Congenital color-vision deficiencies are frequent among males, 4.7-8.0%, suggesting that female carriers are present at a frequency of 9-15%. The purpose of this study was to determine whether carriers could be detected by analysis of the visual pigment genes.DNA from 29 males with congenital color-vision deficiencies, from their mothers, and from 117 randomly-selected females was analyzed. The most upstream genes, the downstream genes, and the most downstream genes in the red/green pigment gene arrays were amplified separately by PCR. Exon 5 of each gene was analyzed by single-strand conformation polymorphisms (SSCP).Analysis of the visual pigment genes suggests that one of the 29 mothers examined is a female protan and two others are carriers of both protan and deutan defects. The remaining 26 mothers were confirmed to be carriers of congenital color-vision deficiencies. Unusual patterns were observed in 15 (13%) of the randomly-selected females; among them, 5 appeared to be protan carriers and at least 4 to be deutan carriers.Female carriers of congenital color-vision deficiencies can be detected by analysis of the visual pigment genes. Since the proportion of females showing unusual patterns was slightly higher than expected, some must be false-positives and require more detailed examination.
- Published
- 2000
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