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Japanese

Analysis for cases of congenital color vision defects with normal genotype Shinichi Yamade 1 , Sanae Oda 1 , Yuki Tanaka 2 , Hisao Ueyama 2 , Shoko Tanabe 3 , Takaaki Hayashi 4 , Deeb Samir S 4 1Dept of Ophthalmol, Shiga Univ of Med Sci 2Dept of Med Biochem, Shiga Univ of Med Sci 3Dept of Ophthalmol, Japanese Red Cross Nagoya First Hosp 4Dept of Med and Genetics, Univ of Washington, USA pp.265-269
Published Date 2001/3/15
DOI https://doi.org/10.11477/mf.1410908966
  • Abstract
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We analyzed the genes of 167 Japanese males with congenital color vision defects. The genotype coincided with the clinically diagnosed phenotype in 122 cases (73.1%). Out of the other 45 cases, 19 showed normal genotypes having both red and green genes. These 19 cases comprised 3 protanomals, 3 deuteranopes and 13 deuteranomals. Out of these 16 deutan cases with normal genotypes, 14 (88%) had A to C nucleotide substitution at the -71 position (promoter region) of the green (downstream) genes. This A-71C mutation was also found in other color-defective cases as well as in males with normal color vision, but at significantly lower frequencies. The transfection analysis and the gel mobility shift assays showed that the A -71C substitution diminished the transcriptional activity of the promoter to approximately50% as compared to the wild type. This mutation seemed to be closely associated with deutan defects.


Copyright © 2001, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1882-1308 印刷版ISSN 0370-5579 医学書院

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