Molecular Biological Approach to Hereclitay Detinoclsotdal Disorders

采用PCR和SSCP方法对视网膜色素变性患者的DNA进行筛查，筛查后对异常条带进行测序，目前已发现2个视紫红质基因突变（Pro347 Leu，Thr 17 Met）和1个外周蛋白/RDS基因突变（Asp 244 Lys）的家系。我们还观察了这些家系的临床表现，发现基因型和表型之间存在明确的关联。乙酰唑胺已被尝试用于治疗视网膜色素变性患者。该药物对黄斑囊样水肿患者有一定疗效。同时对视网膜色素变性患者进行了高眼压治疗和肾上腺素治疗，并对视网膜脉络膜回旋状萎缩患者的OAT基因进行了分析。日本患者的OAT基因突变具有特异性，提示临床表现与基因异常之间存在相关性。日本患者的临床结果与其他种族患者的临床结果非常不同，表明了种族临床数据的重要性。

We screened the DNAs from patients with retinitis pigmentosa by the methods of PCR and SSCP.Afer screening, we determined the sequences of the DNA when abnormal bands were observed by SSCP.So far, two families with the rhodopsin gene mutations (Pro347Leu, Thr17Met) and one family with the peripherin/RDS gene mutation (Asp244Lys) have been found by these methods. We also have observed clinical findings of the families that showed the definite association of genotypes and phenotypes.Acetazolamide has been tried to treat patients with retinitis pigmentosa. The medicine has been useful for the patients with cystoid macular edema. We also have been trying hyperbarix treatment and prostaglandins to patients with retinitits pigmentosa.OAT gene of patients with gyrate atrophy of the choroid and retina has been analyzed. The OAT gene mutations of the Japanese patients were specific, suggesting the relationship between the clinical findings and gene abnormalities.Clinical findings of Japanese patients with X-linked ocular albinism were analyzed. The clinical findings of the Japanese patients were quite diferent from those of other racial patients, suggesting the importance of the clinical data on the races.