Luminex200平台在地中海性贫血基因检测中的应用

Application of Luminex200 platform in thalassemia gene detection

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 explore the application value of Luminex200 platform in the detection of thalassemia gene. Methods：A total of 5809 samples（including whole blood,umbilical cord blood,amniotic fluid samples）from April to December,2016 in our hospital were analyzed in the Luminex200 platform. The samples were also subjected to PCR probe method,Gap-PCR validation. Results：The positive rate of non α-deletion was 3.86% in 5809 cases,the positive rate of α-deletion was 30.57% in 1776 cases,the positive rate of β-deletion was 19.33% in 1123 cases,the positive case had been verified by the traditional PCR technology to with a compliance rate of 100%. Conclusions：Luminex200 is a new type of instrument for detecting anemia in the Mediterranean. It can effectively detect multiple loci at the same time. It also has the advantages of high efficiency,accuracy and stability,which can be widely used in gene diagnosis of thalassemia.