Document Detail


M- and L-cones in early infancy: III. Comparison of genotypic and phenotypic markers of color vision in infants and adults.
MedLine Citation:
PMID:  9893840     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Genetic analyses were performed on five male children (approximately 3 years), two suspect color-normals and three suspects for congenital color vision deficiencies. These classifications were based on visually-evoked potential (VEP) responses to M- and L-cone-isolating stimuli obtained in a previous study when each subject was either 4- or 8-weeks old. The present analyses were performed in a blind study to characterize the genotypes of these subjects. Four male adults with various color vision phenotypes were also tested as a control. DNA was isolated using a non-invasive technique followed by polymerase chain reaction (PCR) amplification and restriction enzyme analysis to examine the genomic DNA of each subject. The genetic analyses confirmed the VEP identification of two color defective infants, and were consistent with the diagnosis of two other infants as color normal. A third infant was predicted by VEP analysis to have a protan defect, but he did not have a gene array typically found in protan observers.
Authors:
M L Bieber; J S Werner; K Knoblauch; J Neitz; M Neitz
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Vision research     Volume:  38     ISSN:  0042-6989     ISO Abbreviation:  Vision Res.     Publication Date:  1998 Nov 
Date Detail:
Created Date:  1999-02-16     Completed Date:  1999-02-16     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  0417402     Medline TA:  Vision Res     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  3293-7     Citation Subset:  IM    
Affiliation:
Department of Psychology, University of Colorado, Boulder 80309-0345, USA. mbieber@psych.colorado.edu
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MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Color Perception / genetics*
Color Vision Defects / genetics*
DNA / analysis
Evoked Potentials, Visual
Genotype
Humans
Linkage (Genetics)
Male
Phenotype
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Retinal Cone Photoreceptor Cells / physiology*
X Chromosome
Grant Support
ID/Acronym/Agency:
AG04058/AG/NIA NIH HHS; EY09303/EY/NEI NIH HHS; HD19143/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
9007-49-2/DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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