中国人视网膜色素变性1基因突变频率及其与视网膜色素变性的关联分析  

Rentinitis pigmentosa 1 gene mutation frequency and its correlation with rentinitis pigmentosa in Chinese population

作　　者：张馨方[1] 盛迅伦 庄文娟[1] 孟瑞华[3] 容维宁[1] 

机构地区：[1]宁夏医学院附属医院眼科,750004 [2]山东省青岛市经济技术开发区第一人民医院眼科 [3]青岛大学医学院附属医院眼科

出　　处：《中华眼底病杂志》2007年第6期401-404,共4页Chinese Journal of Ocular Fundus Diseases

基　　金：国家自然科学基金资助项目（30260113）

摘　　要：目的研究常染色体显性遗传视网膜色素变性（ADRP）患者和散发视网膜色素变性（RP）患者RPl基因突变频率及特征，并探讨它们在RP发病机制中潜在的作用。方法运用聚合酶链反应和直接测序方法，对7个ADRP家系的55例成员、散发RP患者30例及75名健康成年人进行了RPl基因全编码区和邻近剪切位点的内含子区域序列突变的检测。运用单因素分析、多因素Logistic回归分析研究RPl基因突变位点对RP的作用。结果ADRP家系成员和散发的RP患者在RPl基因的第四外显子上均检测出852、872、92l和939共4个变异位点。在ADRP家系和散发的RP患者中RPl基因的R872H位点改变与RP之间存在显著相关性（X^2=4．469，P=0．03）。P9031。位点的改变仅在家系成员中检出，散发病例及正常人中均未检测出。结论RPl基因R872H位点多态性可增高RP的危险性，具有潜在的致病性，考虑为家系和散发RP患者的易感基因。P903L位点改变是否为致病基因有待于进一步证实。Objective To observe the mutation frequency and the characteristics of rentinitis plgmentosa （RP）I gene in the Chinese patients with autosomal dominant （AD） RP or sporadic RP （SRP）, and to evaluate their potential effects on the pathogenesis of RP. Methods Fifty-five members from 7 Chinese families with ADRP, 30 patients with SRP, and 75 healthy adults were recruited. Polymerase chain reaction （PCR） and direct DNA sequencing were used to detect the sequence mutation in the entire coding region and splice sites of RP1 gene. Univariate analysis and multivariate analysis were used to detect the effect of RP1 gene mutation sites on RP. Results Four coding sequence variants were detected in the codes of 852,872,921 and 939 at the exon 4 of RP1 gene. The R872H alteration, which was found in both ADRP families and patients with SRP, showed positive correlation with RP confirmed by the multivariate logistic regression analysis. The P903L alteration was only found in ADRP families but not in the patients with SRP or the healthy adults. Conclusions The R872H alteration in the RP1 gene is likely to increase the risk of RP, and may be a susceptible gene of RP. Whether the P903L alteration is a disease causing factor needs to be further studied.

关 键 词：视网膜疾病 色素上皮 眼 多态现象 遗传 基因 抑制 

分 类 号：R686[医药卫生—骨科学]