PCR-流式荧光杂交用于8005例地中海贫血产前基因诊断的回顾性分析  

A retrospective analysis of 8 005 cases of prenatal genetic diagnosis of thalassemia using PCR-flow fluorescence hybridization

作　　者：秦丹卿[1] 姚翠泽 王继成[1] 黄演林[1] 胡听听 杜丽[1] Qin Danqing;Yao Cuize;Wang Jicheng;Huang Yanlin;Hu Tingting;Du Li(Medical Genetics Center of Guangdong Women and Children Hospital,Maternal and Children Metabolic-Genetic Key Laboratory of Guangdong,Guangzhou 511442,China)

机构地区：[1]广东省妇幼保健院医学遗传中心,广东省妇幼代谢与遗传病重点实验室,广州511442

出　　处：《中华检验医学杂志》2022年第5期483-487,共5页Chinese Journal of Laboratory Medicine

基　　金：广州市科技计划项目(202002030390)。

摘　　要：目的评价PCR-流式荧光杂交技术在地中海贫血产前基因诊断中的诊断效能。方法回顾性分析2017年9月至2020年12月间于广东省妇幼保健院进行地中海贫血产前基因诊断的8005份胎儿的样本,所有样本均经多重缺口-PCR、PCR-反向斑点杂交法、Sanger测序和多重连接依赖性探针扩增等方法确诊基因型,同时应用PCR-流式荧光杂交技术作为地中海贫血常见突变位点的验证平台进行平行检测。分析基因检测结果,并比较PCR-流式荧光杂交技术与传统方法对于地中海贫血常见突变位点的检测结果的诊断效能差异。结果传统方法共检出地中海贫血阴性样本1939份,阳性样本6066份,其中包括α-地中海贫血4513份、β-地中海贫血1475份以及αβ-地中海贫血78份。经软件首次判读,PCR-流式荧光杂交方法共判读成功7845份,与传统方法比较,其敏感度、特异度和准确度均为100%。首次判读失败的160份样本经复检或人工复核数据后均可成功正确判读。结论PCR-流式荧光杂交方法与传统方法对于地中海贫血产前基因诊断中常见突变位点的诊断效能无差异。Objective To evaluate the diagnostic capabilities of PCR-flow Fluorescence Hybridization technology in prenatal genetic diagnosis of thalassemia.Methods 8005 cases of prenatal genetic diagnosis of thalassemia in Guangdong Women and Children Hospital from September 2017 to December 2020 were retrospectively analyzed.All samples were diagnosed by traditional genetic methods include multiple Gap-PCR,PCR-RDB,MLPA and Sanger sequencing.Meanwhile,PCR-flow Fluorescence Hybridization technology was used as a verification platform for detecting common mutation sites of thalassemia.The results were analyzed to evaluate the diagnostic capabilities of PCR-flow Fluorescence Hybridization technology compared with traditional methods in prenatal genetic diagnosis of thalassemia.Results By traditional methods,1939 cases(24.22%,1939/8005)were normal and 6066 cases(75.78%,6066/8005)were diagnosed as thalassemia,including 4513 cases ofα-thalassemia,1475 cases ofβ-thalassemia,and 78 cases ofαβ-thalassemia.By PCR-flow Fluorescence Hybridization technology,7845 samples were successfully diagnosed after initial interpretation by software.Compared with traditional methods,all the sensitivity,specificity and accuracy were 100%.The other 160 samples which failed in the initial interpretation can be successfully interpreted after review or manual interpretation.Conclusion There were no differences between the two methods on the detecting of common mutation sites of thalassemia.

关 键 词：地中海贫血 PCR-流式荧光杂交 液相芯片 产前基因诊断 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]