液相芯片技术检测地中海贫血国家参考品  

Detecting national reference material for thalassemia by liquichip technology

作　　者：张文新 林卫萍 孙楠[1] 高飞[1] 孙晶 黄杰[1] 曲守方[1] ZHANG Wenxin;LIN Weiping;SUN Nan;GAO Fei;SUN Jing;HUANG Jie;QU Shoufang(National Institutes for Food and Drug Control,Beijing,China,100050;Daan Gene Co.,Ltd.Of Sun Yat-Sen University,Guangzhou,Guangdong,China,510665)

机构地区：[1]中国食品药品检定研究院,北京100050 [2]中山大学达安基因股份有限公司,广东广州510665

出　　处：《分子诊断与治疗杂志》2020年第6期705-709,共5页Journal of Molecular Diagnostics and Therapy

基　　金：国家重点研发专项(2016YFC1000300)。

摘　　要：目的采用基于液相芯片技术的地中海贫血(α/β型)基因检测试剂盒,对地中海贫血核酸检测国家参考品进行检测,评价该技术方法试剂盒的质量。方法对32例地中海贫血核酸国家参考品进行PCR扩增,将PCR产物杂交后,使用Luminex Magpix平台进行地中海贫血基因突变的检测,通过判断其检测结果与国家参考品是否一致来评估该方法检测国家参考品的准确性。结果 32例国家参考品检测结果准确,试剂盒检测范围内的国家阳性参考品均为相应基因型别,范围外的国家阳性参考品和国家阴性参考品均为野生型,检测限不高于25ng。结论基于液相芯片技术的地中海贫血(α/β型)基因检测试剂盒(PCR-流式荧光杂交法),完善了地中海贫血基因突变的检测方法,能够符合地中海贫血核酸检测国家参考品的要求。Objective To evaluate the quality of the kit,the national reference material for thalassemiade tected by the thalassemia(α/βtype)gene detecting kit based on liquichip technology.Methods PCR amplification was performed on 32 cases of thalassemia national nucleic acid reference materials,after hybridization of PCR products,the mutation of thalassemia genes was detected using the Luminex Magpix platform.The accuracy of this method was evaluated by whether the test relusts were consistent with the national reference materials.Results The results of 32 samples were all consistent with the original types.The results of the national positive reference within the detection range of the kit were the corresponding genotype.The results of the national negative reference and the national positive reference beyond the detection range of the kit were wild-type.The limit of detection was not higher than 25ng.Conclusion Theliquichip technology could further improve the gene detection method of thalassemia disease and meet the requirements of national reference material for thalassemia.

关 键 词：液相芯片技术 地中海贫血 国家参考品 突变 

分 类 号：R556.61[医药卫生—血液循环系统疾病]