NDLI: An A-71C substitution in a green gene at the second position in the red/green visual-pigment gene array is associated with deutan color-vision deficiency.

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An A-71C substitution in a green gene at the second position in the red/green visual-pigment gene array is associated with deutan color-vision deficiency.

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An A-71C substitution in a green gene at the second position in the red/green visual-pigment gene array is associated with deutan color-vision deficiency.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Fu, Gui-lian Lertrit, Patcharee Atchaneeyasakul, La-ongsri Ohkubo, Iwao Oda, Sanae Tanabe, Shoko Nishida, Yasuhiro Yamade, Shinichi Li, Yao-hua Ueyama, Hisao
Spatial Coverage	Japan
Description	Author Affiliation: Ueyama H ( Departments of Medical Biochemistry and Ophthalmology, Shiga University of Medical Science, Seta, Otsu 520-2192, Japan. datt@belle.shiga-med.ac.jp);
Abstract	We studied 247 Japanese males with congenital deutan color-vision deficiency and found that 37 subjects (15.0%) had a normal genotype of a single red gene followed by a green gene(s). Two of them had missense mutations in the green gene(s), but the other 35 subjects had no mutations in either the exons or their flanking introns. However, 32 of the 35 subjects, including all 8 subjects with pigment-color defect, a special category of deuteranomaly, had a nucleotide substitution, A-71C, in the promoter of a green gene at the second position in the red/green visual-pigment gene array. Although the -71C substitution was also present in color-normal Japanese males at a frequency of 24.3%, it was never at the second position but always found further downstream. The substitution was found in 19.4% of Chinese males and 7.7% of Thai males but rarely in Caucasians or African Americans. These results suggest that the A-71C substitution in the green gene at the second position is closely associated with deutan color-vision deficiency. In Japanese and presumably other Asian populations further downstream genes with -71C comprise a reservoir of the visual-pigment genes that cause deutan color-vision deficiency by unequal crossing over between the intergenic regions.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	6
Volume Number	100
Language	English
Publisher	National Academy of Sciences
Publisher Date	2003-03-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Color Vision Defects Genetics Point Mutation Retinal Pigments African Continental Ancestry Group Asian Continental Ancestry Group Case-Control Studies Crossing Over, Genetic DNA Primers European Continental Ancestry Group Exons Genotype Introns Models, Genetic Polymerase Chain Reaction Promoter Regions, Genetic Research Support, Non-U.S. Gov't Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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