染色体微缺失检测准确性评价  

Evaluation of the accuracy of chromosomal microdeletion detection

作　　者：曲守方[1] 李丽莉[1] 张文新 孙楠[1] 黄传峰[1] 黄杰[1] QU Shoufang;LI Lili;ZHANG Wenxin;SUN Nan;HUANG Chuanfeng;HUANG Jie(National Institutes for Food and Drug Control,Beijing,China,100050)

机构地区：[1]中国食品药品检定研究院,北京100050

出　　处：《分子诊断与治疗杂志》2022年第6期916-919,923,共5页Journal of Molecular Diagnostics and Therapy

摘　　要：目的 使用染色体拷贝数变异检测国家参考品,评价基于高通量测序技术的染色体微缺失检测准确性。方法 使用不同高通量测序平台的染色体拷贝数检测试剂盒,检测国家参考品中的染色体微缺失综合征样本。先将国家参考品进行DNA片段化和接头连接等步骤构建文库,并进行文库纯化。对纯化的文库进行质量控制后,使用不同型号的基因测序仪进行检测。然后使用试剂盒的生物信息分析软件分析获得的测序数据,得到样本的染色体拷贝数的检测结果。结果 不同试剂盒对染色体微缺失综合征样本的结果均能检出标注的染色体拷贝数变异类型,而且试剂盒和对照方法的变异区域的交叠区域均不低于对照方法的变异区域的80%。结论 经评估,不同测序平台的染色体拷贝数检测试剂盒能够检出染色体微缺失的染色体拷贝数变异类型,而且检测的交叠区域均在在变异区域的规定范围内,能够满足染色体微缺失检测准确性的要求。Objective To evaluate the accuracy of chromosomal microdeletion detection based on highthroughput sequencing technology by using national reference materials for chromosomal copy number variation detection. Methods Chromosomal copy number detection kits from different high-throughput sequencing platforms were used to detect chromosomal microdeletion syndrome samples in national reference materials. First,the national reference materials were subjected to DNA fragmentation and adapter ligation to construct the library,and the library was purified. After the quality control of the purified library,different types of gene sequencers were used for detection. Then,the obtained sequencing data was analyzed according to the biological information analysis software of the kit to obtain the detection result of the chromosome copy number of the sample. Results The results of different kits for chromosomal microdeletion syndrome samples can detect the marked chromosomal copy number variation types,and the overlapping area of the variation area of the kit and the control method is not less than 80% of the variation area of the control method. Conclusion After evaluation,the chromosomal copy number detection kits of different sequencing platforms can detect chromosomal copy number variation types of chromosomal microdeletions,and the detected overlapping regions are within the specified range of the variation region,which can meet the requirement of the accuracy of chromosomal microdeletion detection.

关 键 词：染色体拷贝数变异 染色体微缺失 染色体微重复 高通量测序技术 准确性 

分 类 号：R440[医药卫生—诊断学]