视网膜色素变性患者视紫红质基因突变分析

摘要

Objective To study the rate and the feature of thodopsin ( RHO ) gene mutation among Chinese patients with retinitis pigmentosa ( RP ) and to evaluate its effect on the pathogenesis of RP. Methods Direct DNA sequencing was employed to detect point mutations occurring in RHO gene complete sequence in 55 RP proband of the Han nationality from Chinese mainland and 55 normal controls. Results Seven kinds of point mutation were detected, of which two were non - pathogenic missense mutations, and the remaining five were non - coding region single nucleotide polymorphisms ( SNP ). There was no significant difference between the frequency of SNP mutation in the experiment group and control group ( P ＞ 0. 05 ). Conclusion The predicted mutation rate of RHO gene in patients with RP in South China is less than that reported overseas. SNP detection has no significant correlation with RP.%目的 研究中国人视网膜色素变性(RP)患者视紫红质(RHO)基因的突变频率及特征,探讨其在RP发病机制中的作用.方法 运用DNA直接测序法,对55例中国内地汉族RP先证者及55例对照者进行RHO全基因突变检测分析.结果 共检出7种碱基变异,其中2种为非致病错义突变,其余5种为非编码区单核苷酸多态性,RP组和对照组各单核苷酸多态性位点突变频率比较,差异均无统计学意义(P＞0.05).结论 RHO基因在中国华南地区RP 患者中的突变率低于国外报道.检出的已报道的单核苷酸多态性位点与RP无显著相关性.