Winderickx J, Sanocki E, Lindsey D T, Teller D Y, Motulsky A G, Deeb S S
Department of Medicine, University of Washington, Seattle 98195.
Nat Genet. 1992 Jul;1(4):251-6. 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.
迄今为止所描述的所有红/绿色觉缺陷都与红/绿色素视蛋白基因阵列（Xq28）内的大规模重排有关。我们现在描述一名患有严重绿色弱但无此类重排的男性。绿色视蛋白第203位的一个高度保守的半胱氨酸被精氨酸替代可能是导致他色觉缺陷的原因。令人惊讶的是，这种突变在人群中相当常见（2%），但显然并非总是表现出来。与正常色觉者中某些5'绿色 - 红色杂交基因不表达类似，我们认为当突变基因位于几个绿色视蛋白基因中的远端（3'）位置时，就会出现不表现的情况。这种突变也可能易患某些X连锁视网膜营养不良。
