基于新一代测序的遗传性视网膜变性基因诊断技术:意义及挑战  

Significance and challenge of gene diagnosis for inherited retinal degenerations based on next-generation sequencing

作　　者：雷博 Lei Bo(Department of Ophthalmology,Henan Provincial People's Hospital,Henan Eye Institute,Henan Clinical Research Center for Ocular Diseases,Henan Key Laboratory of Ophthalmology and Vision Science,Henan Joint International Laboratory for Ocular Pharmacology and Therapeutics,Zhengzhou 450003,China)

机构地区：[1]河南省人民医院眼科,河南省眼科研究所,河南省眼科疾病临床医学研究中心,河南省眼科与视觉科学重点实验室,河南省眼科药理与治疗学国际联合实验室,郑州450003

出　　处：《眼科》2020年第5期326-330,共5页Ophthalmology in China

基　　金：国家自然科学基金(81770949);河南省眼科与视觉科学重点实验室;河南省眼科疾病临床医学研究中心。

摘　　要：新一代测序(next-generation sequencing,NGS)技术以高通量、低成本的特点革命性地改变了基因组学研究,并极大地推动了患者的分子遗传学诊断,为遗传性视网膜变性的精准诊断和精准治疗奠定了坚实基础。目前眼科医师相对欠缺遗传学和生物信息学知识,对基因检测的意义、检测方法的选择、检测结果的解读以及检测的局限性认识不足。为正确利用NGS,提高对眼科罕见病、疑难病的诊断水平,本文对基于新一代测序单基因遗传性视网膜变性进行基因诊断的意义及挑战进行论述。Next-generation sequencing(NGS)technology has revolutionized genomic research with the characteristics of high throughput and low cost.NGS makes the molecular genetic diagnosis possible and established a solid groundwork for the diagnosis and treatment of inherited retinal degenerations.Nevertheless,due to lacking of genetic and bioinformatics knowledge,many ophthalmologists overlook the significance of gene testing,the selection of detection methods,the interpretation of test results,and the limitations of detections.The significance and challenges of gene diagnosis based on NGS for inherited retinal degeneration were discussed in the article.

关 键 词：遗传性视网膜变性 新一代测序 基因 拷贝数变异 

分 类 号：R774.1[医药卫生—眼科]