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目的 观察一个常染色体显性视网膜色素变性 (autosomal dominant retinitis pigmentosa,ADRP)家系的视紫红质 (rhodopsin,RHO)基因突变特征。 方法 抽取 2 0个 ADRP家系成员外周血 3～5 ml并提取 DNA;聚合酶链反应 (polymerase chain reaction,PCR)扩增 RHO基因第 1～ 5外显子基因片段 ,用直接测序法对 2 0个 DNA样本进行 RHO基因突变检测。 结果 该家系中 10例 ADRP患者的RHO基因的第 182密码子发生 G→A置换突变 (Gly- 182 - Asp) ,而在 2例患者和 8个未患病家系成员中均未发现此突变。 结论 Gly- 182 - Asp突变不一定是 ADRP家系的致病原因 ;在 RHO基因附近可能存在新的基因 ,但还需要进一步研究证明。
Objective To investigate the mutation of rhodopsin (RHO) gene in an autosomal dominant retinitis pigmentosa (ADRP) pedigree. Methods Peripheral blood samples of 20 ADRP pedigrees were collected from 3 to 5 ml and DNA was extracted. Exon 1 to exon 5 of RHO gene were amplified by polymerase chain reaction (PCR) DNA samples for RHO gene mutation detection. Results A mutation in G → A (Gly-182 - Asp) was found at the codon 182 of RHO gene in 10 ADRP patients in this pedigree. However, no mutations were found in 2 patients and 8 non - affected familial members. Conclusion Gly-182 - Asp mutation may not be the causative agent of ADRP pedigree. There may be some new genes in the vicinity of RHO gene, but further study is needed to prove.