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目的探讨Luminex200平台在地中海贫血基因检测中的应用价值。方法对2016年4月-12月我院在Luminex200平台上进行地中海性贫血基因检测的共5809例(包括全血、脐血、羊水标本)的样本进行分析,并对标本进行PCR探针法、Gap-PCR法验证。结果 5809例样本共检出α非缺失型点突变224例,阳性率3.86%;α缺失型点突变1776例,阳性率30.57%;β型点突变1123例,阳性率19.33%,阳性病例(含灰区)经传统的PCR技术进行验证,符合率达100%。结论Luminex200作为一种新型检测地中海性贫血的仪器,能高效同时检测多个位点,具有高效、准确、稳定等优势,可在地中海贫血基因诊断中积极推广应用。
Objective To investigate the value of Luminex200 platform in the detection of thalassemia genes. Methods A total of 5809 samples (including whole blood, umbilical cord blood and amniotic fluid samples) for genetic testing for anemia of the Mediterranean on Luminex200 platform from April to December in 2016 were analyzed. The samples were analyzed by PCR probe method, Gap-PCR method validation. Results A total of 5809 non-deletional point mutations were detected in 224 cases, the positive rate was 3.86%. The number of α deletion mutation was 1776, the positive rate was 30.57%. The number of β-type point mutation was 1123, the positive rate was 19.33% Gray zone) by the traditional PCR technology to verify, in line with the rate of 100%. Conclusion Luminex200, as a new instrument for detecting Mediterranean anemia, can detect multiple sites simultaneously and efficiently. It has the advantages of high efficiency, accuracy and stability. It can be widely used in the gene diagnosis of thalassemia.