一白族视网膜色素变性家系致病基因筛查  

Screening analysis for the causative genes in a Bai family with retinitis pigmentosa

作　　者：郭海科[1,2,3] 覃泳杰[4] 夏泽梅[5] 孟倩丽[1,2,3] 张洪洋[1,2,3] 金海鹰[1,2,3] 陈艳蕾[1,2,3] 

机构地区：[1]广东省医学科学院 [2]广东省眼病防治研究所 [3]广东省人民医院眼科,广州510080 [4]昆明市第一人民医院眼科,650011 [5]南方医科大学,广州510515

出　　处：《眼科研究》2010年第5期454-457,共4页Chinese Ophthalmic Research

基　　金：广州市科技计划项目(2008B030301170)

摘　　要：目的探讨一白族常染色体显性遗传视网膜色素变性(adRP)家系致病基因与PRPF31、IMPDH、RDS基因多发突变位点的关系。方法采集一连续5代发病的白族adRP家系静脉血3～5mL,提取基因组DNA。应用聚合酶链反应(PCR)对常见的3个adRP候选基因(PRPF31、IMPDH1、RDS)的多发突变位点进行扩增,PCR产物纯化后直接测序;测序结果与GenBank数据库中核酸序列进行Blast分析。结果该白族家系22例成员中,11例(50%)存在PRPF31基因第6内含子4个碱基的缺失(IVS6-78_IVS6-75del4CACA,rs57960425),其中包括7例(53.8%)adRP患者和4例(44.4%)正常个体;11例(50%)存在IVS6-31C/T(rs2303557)变异,包括8例(61.5%)adRP患者和3例(33.3%)正常个体。IMPDH1基因和RDS基因的多发突变位点在该白族家系中未发现任何变异。结论 rs57960425及rs2303557为PRPF31基因中的单核苷酸多态,与该家系的发病无直接相关,该家系的致病基因可能与其他基因有关。Background Autosomal dominant retinitis pigmentosa （adRP） is one of common forms of RP worldwide,and it has been reported in many populations. However,no the survey on the patients from the Bai nationality,one of minority ethnic groups of southwest China, was seen yet. Objective The current study was to investigate the relationship between causative genes of a Bai family with adRP and the mutational hot spot of PRPF31 ,IMPDH1 and RDS genes. Methods The peripheral blood samples （3 -5 mL） were obtained from the 22 families of a five generations Bai family,including 13 adRP patients and 9 unaffected subjects. Genomic DNA was purified using an extraction kit and as template for the amplification of mutational hot spot of PRPF31,IMPDH1 and RDS genes. Polymerase chain reaction （PCR） productions were analyzed by directive sequencing, and the data were compared with the sequences from GenBank database. This study was approved by the ethic committee of this hospital. Written informed consent was obtained from each subjects prior to this protocol. Results The sequencing result showed that a four-base deletion at intron 6 of PRPF31 （ IVS6-78_ IVS6-75de14CACA, rs57960425 ） was observed in eleven members （50%） ,including seven adRP patients （53.8%） and four unaffected individuals （44.4%）. A variation IVS6-31 C/T （rs2303557） was also found at intron 6 of PRPF31 in eight affected lnembers （61.5%） and three unaffected members （33.3%）. No variation was found in IMPDH1 and RDS genes. Conclusion rs57960425 and rs2303557 in PRPF31 gene are polymorphisms rather than disease-causing mutations in this Bai family with adRP. There may be of other disease-causing locus in this family.

关 键 词：视网膜色素变性 常染色体显性遗传 PRPF31基因 单核苷酸多态性 

分 类 号：R774.1[医药卫生—眼科]