解放军医药杂志2015，Vol.27Issue(6)：53-59,7.DOI:10.3969/j.issn.2095-140X.2015.06.014
目标区序列捕获和第二代测序技术在Duchenne型肌营养不良基因诊断中的应用
Target Region Sequence Capture and Second-generation Sequencing Technology in Application of Genetic Diag-nosis for Duchenne Muscular Dystrophy
张莹 1黄旭升 1刘丽 2李懋 1张小兰 1陈朝晖 1凌丽1
作者信息
- 1. 100853 北京,解放军总医院神经内科
- 2. 100101 北京,解放军306医院神经内科
- 折叠
摘要
Abstract
Objective To make genetic diagnosis of Duchenne muscular dystrophy ( DMD) patients using target region sequence capture and second-generation sequencing technology, and to validate its sensitivity and specificity. Methods Target region sequence capture and second-generation sequencing technology were used to detect the gene mu-tations of 19 DMD patients, and 8 micromutation samples were confirmed using Sanger sequencing method. Results All the 19 patients had DMD gene defects including 11 having exon deletions and 8 having point mutations. Three of the mu-tations were firstly found by Sanger sequencing method. Conclusion Target region sequence capture and second-genera-tion sequencing technology can detect almost all types of mutations in DMD patients with better detecting efficiency, sen-sitivity and specificity.关键词
肌营养不良,杜氏/基因检测/第二代测序Key words
Muscular dystrophy/Duchenne/Genetic diagnosis/Second-generation sequencing分类
医药卫生引用本文复制引用
张莹,黄旭升,刘丽,李懋,张小兰,陈朝晖,凌丽..目标区序列捕获和第二代测序技术在Duchenne型肌营养不良基因诊断中的应用[J].解放军医药杂志,2015,27(6):53-59,7.
