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Current Topics in Genetics   Volumes    Volume 5 
Phenotype of color vision as a divisor of possible sites of mutations or deletion points
Marcelo Fernandes Costa
Pages: 37 - 44
Number of pages: 8
Current Topics in Genetics
Volume 5 

Copyright © 2012 Research Trends. All rights reserved

The Duchenne Muscular Dystrophy (DMD) presents specific changes in physiology and visual function related to exon 30, which transcribes protein Dp260, expressed in the retina. More than 60% of children and young people with DMD and deletions downstream exon 30 show changes in visual functions and the vision of red-green color, and contrast sensitivity for red-green color. However, a large percentage of children with DMD genetic evaluations are not able to detect genetic alterations such as deletions or duplications. Because color vision is altered in a specific way in these patients, our proposal is that color vision may be potential aids in the discovery of possible areas where these deletions are occurring. Since we have no idea where a deletion in a given patient might be, our data suggest that, if he has any changes in red-green color vision, there is a high possibility of the genetic defect to be occurring downstream exon 30.
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