散发性视网膜色素变性视紫红质基因突变筛查  

Screening for mutation in rhodopsin gene among Chinese sporadic retinitis pigmentosa

作　　者：管涛[1] 麻张伟 丁世萍[2] 

机构地区：[1]浙江省台州市立医院椒江眼科医院眼科,台州318000 [2]浙江大学细胞生物学研究所,杭州310031

出　　处：《中国眼耳鼻喉科杂志》2008年第6期351-353,I0005,共4页Chinese Journal of Ophthalmology and Otorhinolaryngology

摘　　要：目的研究中国人散发性视网膜色素变性(sporadic retinitis pigmentosa,SRP)患者视紫红质(rhodopsin,RHO)基因突变频率及特征,揭示其在SRP发病机制中的潜在作用。方法运用聚合酶链反应-单链构象多态性(polymerase chain reaction-single-strand conformation polymorphism,PCR-SSCP)结合DNA测序技术,对80例SRP患者和80例健康对照者进行RHO基因5个外显子的突变筛查。结果SRP患者RHO基因5个外显子PCR扩增产物经SSCP分析后,发现其电泳带型与对照组一致,均包括2条单链带和1条双链带,且电泳迁移率相同,即在患者和对照组中均未检测到RHO基因突变。结论中国人SRP患者RHO基因外显子的突变率较低;PCR-SSCP分子遗传学方法快速、简单、灵敏,适用于大批量RP患者的基因变异筛查。Objective To clarify the rate and the patterns of rhodopsin（RHO） geue mutation in Chinese sporadic retinitis pigmentosa （SRP） patients and to evaluate their effects on the pathogenesis of SRP. Methods The mutations in the 5 coding exons of RHO gent were detected using polymerase chain reaction-single-strand conformation polymorphism （PCR-SSCP） combined with DNA sequencing in 80 SRP patients and 80 healthy controls. Results The resuhs of PCR-SSCP analysis of the 5 coding exons in RHO gene in the SRP cases all showed the same patterns with the controls including two single strand and one double strand. The nucleotide sequence variation in the RHO geue exons was not found by SSCP electrophoresis. Conclusions The prevalence of the RHO gene exons mutation among the SRP patients in Chinese population was less than that in other population. PCR-SSCP was found to be a rapid, simple and sensitive method for screening a large number of RP samples. （Chin J Ophthalmol and Otorhinolaryngol,2008 ,8 ：351-353 ）

关 键 词：视网膜色素变性 视紫红质基因 突变 

分 类 号：R774.1[医药卫生—眼科]