Molecular Genetics of X Chromosome-Linked Color Vision Among Populations of African and Japanese Ancestry: High Frequency of a Shortened Red Pigment Gene Among Afro-Americans
Red-green color vision in humans is mediated by the X chromosome-linked highly homologous red and green pigment genes. Color vision defects are caused by deletions and fusions involving these genes. However, we found the frequency of molecular abnormalities among Caucasians to be twice as high as th...
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Veröffentlicht in: | Proceedings of the National Academy of Sciences - PNAS 1990-09, Vol.87 (17), p.6512-6516 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | Red-green color vision in humans is mediated by the X chromosome-linked highly homologous red and green pigment genes. Color vision defects are caused by deletions and fusions involving these genes. However, we found the frequency of molecular abnormalities among Caucasians to be twice as high as that of phenotypic color vision defects. Among Japanese the frequency of phenotypic and molecular color vision defects was similar (≈ 5%. Among Afro-Americans, molecular defects (largely green-red fusion genes) were at least five times more frequent (21%) than phenotypic color vision defects (≈ 4%). In addition, 35% of Afro-Americans, 2% of Japanese, and |
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ISSN: | 0027-8424 1091-6490 |
DOI: | 10.1073/pnas.87.17.6512 |