中国全科医学2011，Vol.14Issue(15)：1659-1662,4.
视网膜色素变性患者视紫红质基因突变分析
Analysis of the Rhodopsin Gene Mutation in Patients with Retinitis Pigmentosa
摘要
Abstract
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.关键词
视网膜炎,色素性/视紫质/基因分类
医药卫生引用本文复制引用
刘逾,贾晓林,李进军,卢立志,刘晓玲..视网膜色素变性患者视紫红质基因突变分析[J].中国全科医学,2011,14(15):1659-1662,4.基金项目
国家自然科学基金(30470962) （30470962）
浙江省留学回国基金(2005-181) （2005-181）
