Weitz C J, Miyake Y, Shinzato K, Montag E, Zrenner E, Went L N, Nathans J
Department of Molecular Biology, Johns Hopkins University School of Medicine, Baltimore 21205.
Am J Hum Genet. 1992 Mar;50(3):498-507.
Tritanopia is an autosomal dominant genetic disorder of human vision characterize by a selective deficiency of blue spectral sensitivity. The defect is manifested within the retina and could be caused by a deficiency in function or numbers (or both) of blue-sensitive cone photoreceptors. We have used PCR, denaturing gradient gel electrophoresis, and DNA sequencing of amplified exons to detect in four of nine unrelated tritanopic subjects two different point mutations in the gene encoding the blue-sensitive opsin, each leading to an amino acid substitution. Segregation analysis within pedigrees and hybridization of oligonucleotides specific for each allele to DNA samples from control subjects support the hypothesis that these mutations cause tritanopia. These results complete the genetic evidence for the trichromatic theory of human color vision.
蓝色盲是一种常染色体显性遗传的人类视觉障碍，其特征是对蓝色光谱的敏感性选择性缺失。这种缺陷表现在视网膜内，可能是由于蓝色敏感视锥光感受器的功能缺陷或数量不足（或两者皆有）所致。我们利用聚合酶链反应（PCR）、变性梯度凝胶电泳以及对扩增外显子的DNA测序，在9名无亲缘关系的蓝色盲受试者中的4名检测到了编码蓝色敏感视蛋白的基因中有两种不同的点突变，每种突变都导致了一个氨基酸的替换。家系内的分离分析以及针对每个等位基因的寡核苷酸与对照受试者DNA样本的杂交结果支持了这些突变导致蓝色盲的假说。这些结果完善了人类色觉三色理论的遗传学证据。
