2012 Fiscal Year Final Research Report
Analysis of L/M visual pigment genes in congenital color vision defects with a discrepancy between phenotype and genotype
| Project/Area Number |
22591940
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Ophthalmology
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| Research Institution | Shiga University of Medical Science |
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Principal Investigator |
UEYAMA Hisao 滋賀医科大学, 医学部, 准教授 (30127013)
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| Co-Investigator(Kenkyū-buntansha) |
MURAKI Sanae 滋賀医科大学, 医学部, 講師 (90335175)
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| Project Period (FY) |
2010 – 2012
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| Keywords | 網膜 / 錐体 / 色覚異常 / 視物質遺伝子 |
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| Research Abstract |
Thirty dichromats had a genotype of anomalous trichromacy, and 85 color-deficient subjects had a normal genotype; a total of 115 among the 725 subjects showed a discrepancy between their phenotype and genotype. Among them, 82 subjects had a base substitution of －71A→C, which is thought to cause no or little expression of the corresponding visual pigment gene. Eleven subjects had a mutation in the exons. Two had a unique haplotype in exon 3, which causes complete skipping of the exon at splicing.
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