荧光定量PCR基因检测对G6PD缺乏症的诊断价值探讨  

Diagnostic Value of Fluorescence Quantitative PCR Gene Detection in G6PD Deficiency

作　　者：王亨莉[1] 钟志娟[1] WANG Heng-li;ZHONG Zhi-juan(The Fifth Affiliated Hospital of Sun Yat-sen University,Zhuhai 519001,China)

机构地区：[1]中山大学附属第五医院

出　　处：《吉林医学》2020年第3期558-559,共2页Jilin Medical Journal

摘　　要：目的:探讨荧光定量PCR对G6PD缺乏症患者进行基因检测的诊断价值。方法:选取接收的100份血样(阴性标本和阳性标本各50份),分别使用荧光定量PCR(观察组)和高铁血红蛋白还原法(对照组)对血样进行检测,最终用Sanger测序法评判结果。结果:观察组的特异性、灵敏度、阴性预测值、阳性预测值、诊断符合率均显著高于对照组,差异有统计学意义(P<0.05)。结论:荧光定量PCR在诊断G6PD缺乏症时,灵敏度更高、特异性更好、准确率更好,值得在临床上进行推广。Objective To explore the diagnostic value of fluorescence quantitative PCR for gene detection in patients with G6PD deficiency.Method 100 blood samples(50 for negative and 50 for positive samples)were selected from the undergraduate study,and the blood samples were tested by fluorescence quantitative PCR(observation group)and methemoglobin reduction(control group)respectively.Final evaluation of results by Sanger sequencing.Results The specificity,sensitivity,negative predictive value,positive predictive value and diagnostic coincidence rate of the observation group were all significantly higher than those of the control group(P<0.05).Conclusion Fluorescence quantitative PCR has higher sensitivity,better specificity and better accuracy in the diagnosis of G6PD deficiency,which is worthy of clinical application.

关 键 词：荧光定量PCR G6PD缺乏症 高铁血红蛋白还原法 Sanger测序法 

分 类 号：R440[医药卫生—诊断学] R596[医药卫生—临床医学]