Nathans J, Piantanida T P, Eddy R L, Shows T B, Hogness D S
Science. 1986 Apr 11;232(4747):203-10. doi: 10.1126/science.3485310.
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.
红绿“色盲”是由编码红色和绿色视觉色素的基因改变所引起的这一假说，已经得到验证且被证明是正确的。以克隆的红色和绿色色素基因为探针，通过Southern印迹杂交法，对25名患有各种红绿颜色视觉缺陷的男性的基因组DNA进行了分析。观察到的基因型似乎是由不等交换或基因转换（或两者兼有）导致的。这些数据与染色体定位实验一起，确定了每个克隆的人类视觉色素基因。
