常染色体显性遗传视网膜色素变性家系视紫红质基因突变分析  

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

作　　者：容维宁[1] 盛迅伦 庄文娟[1] 

机构地区：[1]宁夏医学院附属医院眼科 [2]中国山东省青岛市经济技术开发区第一人民医院眼科,2266555

出　　处：《国际眼科杂志》2006年第5期1056-1058,共3页International Eye Science

基　　金：中国国家自然科学基金资助项目(No.30260113)~~

摘　　要：目的:观察常染色体显性遗传视网膜色素变性(autosomaldominantRP,ADRP)家系视紫红质基因(rhodopsin,RHO)的突变特征。方法:抽取11个ADRP家系成员的外周血3～5mL,提取DNA;应用聚合酶链反应(polymerasechainreaction,PCR)扩增RHO基因的第1至5外显子基因片断,对PCR产物进行直接测序。结果:在1个家系中有3例ADRP患者297密码子存在杂合的2种类型的密码子(AGC和AGT)。另外,该家系在第3外显子3'端下游第4个碱基处发生C-T转换,呈T纯合子的1例,8例呈杂合子状态。结论:Ser-297-Ser系基因多态现象。另外,RHO基因第3外显子3'端下游内含子处发生的C/T多态性是否与RP的发生存在相关性,需进一步研究。AIM： To detect and analyze the mutations in rhodopsin gene of members in several families affected by autosomal dominant retinitis pigmentosa （ADRP）. METHODS： Peripheral venous blood 3-5mL was abstracted from 11 ADRP families, genomic DNA was extracted. Exon 1-5 of RHO gene was amplified by polymerase chain reaction （PCR）, and the mutation of RHO gene was screened by direct DNA sequence measurement. RESULTS： Two heterozygotic changes at 297 codon （AGC and AGT） in the RHO gene were detected in three affected members of one ADRP family. In addition, the C→T transition at the forth base downstream of 3＇end of exon 3 in the same family, 1 was homozygote,8 was heterozygote. CONCLUSION： The ser-297-ser is polymorphism of gene. Otherwise, it needs the advanced research to confirm whether polymorphism of C/T founded in the intron is related to the development of retinitis pigmentosa（RP）.

关 键 词：视网膜色素变性 视紫红质基因 基因突变 

分 类 号：R774.1[医药卫生—眼科]