Molecular Biology and Psychophysiology on The Cone Opsins of Color Vision Defects

色素异常是一种先天性红绿色盲，在色觉异常镜下表现为色盲。我们调查了两个色素异常的红色和绿色色素基因的所有外显子的序列。由于其序列与正常色觉的序列完全相同，认为色觉异常的发病机制不是视锥细胞视蛋白的异常，我们成功地用定量PCR-SSCP方法对男性先天性色觉缺陷进行了遗传分析，但女性色觉缺陷者由于存在两条X染色体，使分析变得不可能，在色觉缺陷女性携带者的分析中，我们成功地检测到了色觉缺陷基因，但没有检测到异常基因。视蛋白基因的mRNAs存在于白色血细胞（WBC）中。我们试图将白细胞中的mRNA与表型色觉进行比较。白细胞中mRNA的量很少，这给分析带来了困难。

Pigmentpharbenanomaly, a kind of the congenital red-green color blindness which indicates color muching by anomaloscope. We investigated the sequences of all exons of the red and green pigment genes of two pigmentpharbenanomalies. Because of the sequences were all-same as that of normal color vision, It was thought that the mechanism of Pigmentpharbenanomaly is not the abnormality of the opsins in cones.We succeeded in the genetic analyze of male congenital color vision defects by quantitative PCRSSCP.But in female color vision defects, two X-chromosomes made the analyze is impossible.In the analyze of the female carrier of color vision defect, we succeeded in the detection of the color vision defect gene in only protanomalous carrier but not in deuteranomalous carrier.The mRNAs of opsin genes are in White Blood Cells (WBC) is well known. We tried to compare the mRNAs in WBC with the phenotype-color vision. Very little amount of mRNA in WBC made the analyze difficult.