视网膜色素变性遗传致病基因peripherin/RDS的突变筛选  

Screening of peripherin/RDS gene mutations in the Chinese RP

作　　者：崔云[1] 赵堪兴[1] 王立[1] 王擎 陈薇婴[1] 王犁明[3] 

机构地区：[1]天津市眼科医院眼科研究所 [2]美国CLEVELAND医学中心分子遗传研究室 [3]天津市眼科医院眼科,300040

出　　处：《眼科研究》2002年第5期385-387,共3页Chinese Ophthalmic Research

基　　金：国家自然科学基金杰出青年基金资助项目 (3982 551 0 )

摘　　要：目的　了解中国视网膜色素变性患者 (RP)中peripherin/RDS基因的突变谱及突变率。方法　应用聚合酶链-异源双链 -单链构象多态性 (PCR SSCP)及DNA序列分析技术对收集的 15个常染色体显性遗传视网膜色素变性家系和 5 5例散发视网膜色素变性患者peripherin/RDS基因的第一、第二外显子进行检测。结果　 15个家系及 5 5例散发患者未检测到peripherin/RDS基因突变。结论　本研究所检测的视网膜色素变性患者与RDS基因无关。显示视网膜色素变性的遗传异质性。ObjectiveTo explore the mutation spectrum and incidence of peripherin/RDS gene in Chinese retinitis pigmentosa (RP).MethodGenomic DNA was extracted from the blood samples of 15 autosomal dominant retinitis pigmentosa (ADRP) families and 55 sporadic cases.The mutations of the RDS gene were detected using PCR-SSCP and direct DNA sequence of the amplified PCR product.ResultsNo mutation was detected in exon 1,2 of RDS gene among 15 ADRP families and 55 sporadic RP.ConclusionExon 1 and exon 2 of RDS gene are not responsible for the cases of our study.This result indicates heterogeneous of RP.

关 键 词：筛选 视网膜色素变性 peripherin/RDS 基因突变 

分 类 号：R774.1[医药卫生—眼科]