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Genetic studies of normal color vision

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Abstract

We have studied the familial transmissions of Rayleigh match midpoints and photometric matches (667-551 nm) in observers with normal color vision to assess genetic bases for these two color vision traits (Lutze et al., in press). We first employed segregation analysis to evaluate whether each trait was consistent with determination by allelic variation of a single gene, by multiple genes (polygenic), or by environmental factors. We found that each trait was consistent with determination by a single gene. Blood samples were obtained from the majority of family members tested and DNA was isolated for use in molecular genetic analysis. We are using Southern blot analysis to determine whether the visual pigment genes on the X-chromosome may be responsible for the variation observed in the two color vision traits. To begin this evaluation, we chose to use a highly polymeric, established X-chromosome marker (St14) that is located very close to the visual pigment genes in a linkage analysis.

© 1989 Optical Society of America

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