DNA-diagnosis and standardization of hereditary retial diseases.

遗传性视网膜疾病的 DNA 诊断和标准化。

• 批准号: 62870071
• 负责人: MIKI Naomasa
• 金额: $ 5.06万
• 依托单位: Osaka University Medical School (1989)Kanazawa University (1987-1988)
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Developmental Scientific Research
• 财政年份: 1987
• 资助国家: 日本
• 起止时间: 1987 至 1989
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-62870071/
• 关键词: Retina; Hereditary diseases; Diagnosis; Molecular biology; Photo receptor cells; Pigment epithelium

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.

与其他组织相比，视网膜有许多遗传性疾病。最近已分离出位点基因或接近位点的基因，例如用于色素性视网膜炎的L1.28，用于色盲的红、蓝和绿基因，用于格雷氏萎缩症的鸟氨酸转氨酶，用于莱伯氏病的线粒体DNA，用于夜盲症的视蛋白，视网膜母细胞瘤的 Rb 基因。分别使用 L1.28 和线粒体 DNA 探针将限制性片段多态性 (RFP) 诊断应用于色素性视网膜炎和莱伯氏病。采用免疫组织化学方法研究了格雷氏萎缩基因鸟氨酸转氨酶在视网膜中的分布。研究了两种视网膜特异性cDNA（MEKA和visinin）的结构和功能，发现MEKA蛋白与转导蛋白的β和γ亚基相关，而visinin是视锥细胞中的钙结合蛋白。色素上皮特异性 cDNA 克隆 ​​(MM115) 也被分离出来，它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。

项目成果

三木直正、谷浦秀夫、林要喜知: "筋肉より抽出した神経伸展因子" 神経研究の進歩. 33. 1018-1023 (1989)

Naomasa Miki、Hideo Taniura、Yokitomo Hayashi：“从肌肉中提取的神经拉伸因子”神经学研究进展 33. 1018-1023 (1989)。

K.Fuhiki;Y.Hotta et al.: Invest.Ophthalmol.Vis.Sci.29. 383 (1988)

K.Fuhiki；Y.Hotta 等人：Invest.Ophasemol.Vis.Sci.29。

C-H.Kuo;Y.Watanabe;K.Yamagata;N.Miki: Develop.Brain Res.(1989)

C-H.Kuo；Y.Watanabe；K.Yamagata；N.Miki：开发脑研究（1989）

F. Uehara, M. Sameshima, K. Takumi, K. Unoki, T. Muramatsu and N. Ohba: "Sialic acid in the retina and its significance in the retinal degeneration." Kagoshima Internatl. Symp. Glycoconjugates in Medicine. 310-315 (1988).

F. Uehara、M. Sameshima、K. Takumi、K. Unoki、T. Muramatsu 和 N. Ohba：“视网膜中的唾液酸及其在视网膜变性中的重要性。”

S. Hirashima and N. Ohba: "A pedigree of Laber's congenital amaurosis." Ophthalmic Paediatr. Genet. 9, 29-36 (1988).

S. Hirashima 和 N. Ohba：“Laber 先天性黑蒙的谱系。”