常染色体显性视网膜色素变性家系视紫红质基因突变的检测分析

Analysis of the mutations of rhodopsin gene in autosomal dominant retinitis pigmentosa family

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 detect and analyse the mutations in rhodopsin gene of members in a family affected by autosomal dominant retinitis pigmentosa (ADRP). Methods Using the polymerase chain reaction (PCR), we amplified exon 1-5 of rhodopsin gene in patients with ADRP,and analyzed it with direct sequence measuement. Results The Gly-182-Asp mutation in the rhodopsin gene was detected in most of affected members of this ADRP family, but no mutation was detected in two affected members and the control ones. Conclusion We cannot regard the Gly-182-Asp mutation in the rhodopsin gene as the pathagenic factor of the ADRP family. It is likely there is a new gene next to the rhodopsin gene.