DNA-diagnosis and standardization of hereditary retial diseases.

与其他组织相比，视网膜有许多遗传性疾病。目前已分离到与视网膜色素变性相关的L1.28基因，与色盲相关的红、蓝、绿基因，与Gray‘s萎缩相关的鸟氨酸转氨酶基因，与Leber病相关的线粒体DNA基因，与夜盲相关的Opsin基因，与视网膜母细胞瘤相关的Rb基因等。分别用L1.28和线粒体DNA探针进行视网膜色素变性和Leber病的限制性片段多态性(RFP)诊断。用免疫组织化学方法研究了Gray萎缩的基因鸟氨酸转氨酶在视网膜中的分布。研究了两个视网膜特异的cDNAs(Meka和visinin)的结构和功能，发现Meka蛋白与转导蛋白的β和γ亚基有关，Visinin是视锥细胞中的一种钙结合蛋白。此外，还分离到了色素上皮细胞特异的cDNA克隆(MM115)，该克隆具有蛋白酶抑制活性。建议临床医生自己进行DNA诊断，并使用基因座DNA作为探针，而不是需要连锁分析的探针。

The retina has many hereditary diseases compared to other tissues. Recently the locus genes or the genes close to the locus have been isolated such as L1.28 for retinitis pigmentosa, red, blue and green genes for color blindness, ornithine aminotransferase for Gray's atrophy, mitochondrial DNA for Leber's disease, Opsin for night blindness, Rb gene for retinoblastoma. Diagnosis by restriction fragment polymorphism(RFP) was applied to retinitis pigmentosa and Leber's disease using L1.28 and mitochondrial DNA probes, respectively. The distribution of ornithine aminotransferase which is a locus gene of Gray' atrophy was studied immunohistochemically in the retinas. The structures and functions of two retina-specific CDNAs (MEKA and visinin) were studied and it was found that MEKA protein is associated with beta- and gamma- subunits of transducin, and visinin is a calciumbinding protein in the cone cells. Pigment epithelium-specific cDNA clone (MM115) was also isolated and it had a protease inhibitory activity. It is suggested that a clinician should perform the DNA-diagnosis for himself and use the locus DNA for a probe, not a probe which needs the linkage analysis.