视网膜色素变性中视紫红质与Peripherin／RDS基因的突变筛查

目的:迄今尚未见在国人中经序列分析确定该基因突变的报道。了解国人遗传性视网膜色素变性人群中视紫红质和peripherin/RDS基因的突变情况。方法:对83例遗传性视网膜色素变性先证者视紫红质基因全部编码区和peripherin/RDS部分编码区进行PCR扩增,用异源双链-SSCP法对扩增产物进行分析,寻找有差异电泳带纹的突变样本,序列分析确定突变。结果:83例中3例有视紫红质基因突变(Va1104Phe、Lys311Glu、Pro347Leu),其中两个新突变分别见于散发病例(Va1104Phe,杂合性)和常染色体隐性遗传视网膜色素变性家系(Lys311Glu,纯合性)。在peripherin/RDS基因中未发现突变。结论:在国人视网膜色素变性患者中视紫红质基因突变为常见致病原因。眼科学报1998;14:210～214

Analysis of Rhodopsin and Peripherin/RDS Genes in Chinese Patients with Retinitis Pigmentosa

Purpose: To disclose the mutation of rhodopsin and peripherin/RDS genes among Chinese patients with retinitis pigmentosa as there was no identified mutation through sequencing reported in Chinese.Methods: Genomic DNA was prepared from the peripheral lymphocytes. Gene fragments of the rhodopsin and peripherin/RDS genes were amplifed by the polymerase chain reaction. The PCR products were analyzed by Heteroduplex-SSCP technique. PCR samples with aberrant migrational bands were identified through direct sequencing or cloning sequencing.Results: Three different mutations in the rhodopsin gene were found in 3 of the 83 patients with retinitis pigmentosa(Va1104Phe,Lys311Glu,Pro347Leu). Two of the three mutations have not been reported before. One of the two (heterozygous, Va1104Phe)was found in an isolated patient and the other(homozyaous,Lys311Glu) in a family with autosomal recessive retinitis pigmentosa. Mutation of peripherin/RDS gene was not found in the 83 patients.Conclusion : Mutation in the rhodopsin gene is the common cause in Chinese patients with retinitis pigmentosa, either autosomal dominant, recessive or sporadic. Eye Science 1998; 14; 210 -214.