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

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.