高通量测序法微卫星不稳定性检测评价  

Evaluation of microsatellite instability detection by high-throughput sequencing

作　　者：贾铮 徐任 张文新 黄杰[1] 曲守方[1] JIA Zheng;XU Ren;ZHANG Wenxin;HUANG Jie;QU Shoufang(National Institutes for Food and Drug Control,Beijing,China,100050;Shanghai Yuanqi Bio-Pharmaceutical Co.Ltd,Shanghai,China,201403)

机构地区：[1]中国食品药品检定研究院体外诊断试剂检定所,北京100050 [2]上海源奇生物医药科技有限公司,上海201403

出　　处：《分子诊断与治疗杂志》2021年第10期1565-1568,1573,共5页Journal of Molecular Diagnostics and Therapy

摘　　要：目的利用人类多基因突变联合检测试剂盒(可逆末端终止测序法)检测微卫星不稳定性(MSI)检测国家参考品,评价试剂盒的微卫星不稳定性检测性能。方法采用试剂盒对MSI国家参考品进行阳性参考品符合率、阴性参考品符合率和检测限项目的检测。结果对MSI国家参考品中的62例样本进行检测,其中阳性参考品的结果均为微卫星高度不稳定,阴性参考品的结果均为微卫星稳定,LOD1及LOD3的20%、10%检测限参考品均检出微卫星高度不稳定,但其5%检测限参考品未检出相应的微卫星高度不稳定状态。LOD4、LOD5、LOD6及LOD7检测限参考品检测结果均为微卫星稳定。结论微卫星不稳定性检测国家参考品,适用于高通量测序法的试剂盒微卫星不稳定性检测性能评价。Objective To use human multi-gene mutation detection kit(reversible end-termination sequencing)to detect the national reference materials for microsatellite instability(MSI),to evaluate the kit performance.Methods The national reference materials were detected by the detection kit to determine the coincident rate of positive reference,the coincident rate of negative reference and the limit of detection.Results In 62 cases of testing samples,the results of positive reference were all microsatellite instability-high(MSI-H).The results of negative reference were all microsatellite stability(MSS).The results of LOD1 and LOD3 limit references with tumor DNA content 20%and 10%were MSI-H,but the corresponding MSI-H status was not detected with the tumor concentration of 5%.LOD4,LOD5,LOD6 and LOD7 limit references were all microsatellite stability(MSS).Conclusion The national reference materials for microsatellite instability could be applicable for performance evaluation of the kits by high-throughput sequencing.

关 键 词：微卫星 微卫星不稳定性 错配修复 国家参考品 高通量测序法 

分 类 号：Q811.4[生物学—生物工程]