Genetic analysis reveals visual pigment gene alterations in males with color blindness, indicating that unequal recombination or gene conversion causes inherited color vision deficiencies.
The hypothesis that red-green "color blindness" is caused by alterations in the genes encoding red and green visual pigments has been tested and shown to be correct. Genomic DNA's from 25 males with various red-green color vision deficiencies were analyzed by Southern blot hybridization with the cloned red and green pigment genes as probes. The observed genotypes appear to result from unequal recombination or gene conversion (or both). Together with chromosome mapping experiments, these data identify each of the cloned human visual pigment genes.
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Nathans et al. (1986) studied this question.
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