DEFECTIVE COLOR-VISION ASSOCIATED WITH A MISSENSE MUTATION IN THE HUMAN GREEN VISUAL PIGMENT GENE

作者：WINDERICKX J; SANOCKI E; LINDSEY DT; TELLER DY; MOTULSKY AG; DEEB SS

来源：Nature Genetics, 1992, 1(4): 251-256.

DOI：10.1038/ng0792-251

All red/green colour vision defects described so far have been associated with gross rearrangements within the red/green opsin gene array (Xq28). We now describe a male with severe deuteranomaly without such a rearrangement. A substitution of a highly conserved cysteine by arginine at position 203 in the green opsins presumably accounted for his colour vision defect. Surprisingly, this mutation was fairly common (2%) in the population but apparently was not always expressed. In analogy with nonexpression of some 5'green-red hybrid genes in persons with normal colour vision, we suggest that failure of manifestation occurs when the mutant gene is located at a distal (3') position among several green opsin genes. This mutation might also predispose to certain X-linked retinal dystrophies.

• 出版日期1992-7