视网膜色素变性1基因在常染色体显性遗传视网膜色素变性家系中的突变分析  

Analysis of the mutations of retinitis pigmentosa 1 gene in autosomal dominant retinitis pigmentosa family

作　　者：李春霞[1] 盛迅伦 庄文娟[1] 

机构地区：[1]宁夏医学院附属医院眼科,中国宁夏回族自治区银川市750004 [2]中国山东省青岛市经济技术开发区第一人民医院眼科,266555

出　　处：《国际眼科杂志》2008年第10期2020-2022,共3页International Eye Science

基　　金：中国国家自然科学基金资助(No.30260113)~~

摘　　要：目的:研究常染色体显性遗传视网膜色素变性(autosomal dominant retinitis pigmentosa,ADRP)家系中视网膜色素变性1(retinitis pigmentosa-1,RP1)基因的突变特征及其在RP发病机制中的作用。方法:运用聚合酶链反应和直接测序方法,对6个ADRP家系的47例成员和50例对照者进行了RP1基因全编码区和邻近剪切位点的内含子区域序列突变的筛选与检测。运用单因素分析、多因素Logistic回归分析研究RP1基因点突变在RP发病中的作用。结果:ADRP家系成员和对照组RP1基因第4外显子上检测出2个变异位点。在1691和1725密码子存在杂合的两种类型的密码子(S1691P,Ser-Pro,TCT→CCT;Q1725Q,Gln-Gln,CAA→CAG)。ADRP家系成员中Ser-1691-Pro及Gln-1725-Gln位点突变率显著高于正常对照组(χ2=11.202,P<0.05)。结论:RP1基因Ser-1691-Pro及Gln-1725-Gln位点多态性可增高RP的危险性,具有潜在的致病性,考虑为ADRP家系的易感基因。AIM： To detect and analyze the mutations in retinitis pigmentosa 1 （RP1） gene of members in several families affected by autosomal dominant retinitis pigmentosa （ADRP）. METHODS： The entire coding regine and splice sites of the RP1 gene of 47 affected from 6 ADRP and 50 unrelated controls were screened and detected by using polymerase chain reaction and direct DNA sequencing. Cosegregation analysis and population frequency studies were performed on patients with identified mutations. The clinical features were determined by complete ophthalmologic examina-tions. RESULTS： Two mutations were detected in exon 4 of RP1 gene with ADRP and normal controls. Two heterozygotic changes at 1691 and 1725 codons （S1691P, Ser- Pro, TCT→CCT; Q1725Q, Gin-Gin, CAA→CAG）. The two-point mutation rate of ADRP was significantly higher than that of normal control group （X^2 = 11. 202, P〈 0.05）. CONCLUSION- These mutations of Ser-1691-Pro and GIn-1725-GIn in the RP1 can increase the danger of potential pathogens, which are the single nucleotide polymorphism of the RP1 gene. We can consider the susceptibility gene of ADRP family.

关 键 词：视网膜色素变性 RP1基因 点突变 

分 类 号：R774.1[医药卫生—眼科]