Detection of female carriers of congenital color-vision deficiencies by visual pigment gene analysis
| Autor: | Sanae Oda, Shoko Tanabe, Yuki Tanaka, Hisao Ueyama, Shinichi Yamade, Kazutaka Kani |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
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 |
| Zdroj: | Current Eye Research. 21:767-773 |
| ISSN: | 1460-2202 0271-3683 |
| DOI: | 10.1076/ceyr.21.4.767.5544 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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