摘要
目的探讨PCR-流式荧光杂交技术在地中海贫血基因诊断中的诊断效能。方法采用PCR-流式荧光杂交技术对381例疑似地贫患者标本进行α和β-地贫基因检测,同时以常用的多重Gap-PCR和PCR-RDB为对比方法,比较两者在地贫基因诊断中的结果是否一致。结果采用PCR-流式荧光杂交法对381例疑似地贫样本进行检测,检出地贫165例,检出率为43.31%,包括α-地贫115例、β-地贫43例和αβ-复合地贫7例。α-地贫中检出的基因型主要为--^(SEA)、-α^(3.7)和-α^(4.2);β-地贫中检出CD41-42突变频率最高,其次是IVS-II-654与CD17。PCR-流式荧光杂交法与Gap-PCR技术和PCR-RDB技术相比较,其灵敏度、特异性、阳性预测值、阴性预测值和总符合率均为100%。两种方法检测结果一致性很好。结论 PCR-流式荧光杂交技术操作简便快速、结果可靠,适合于地中海贫血的基因诊断。
Objective To explore the diagnostic capabilities of PCR-flow fluorenscence immunmicrobeads assay in genetic diagnosis for thalassemia. Methods The PCR-flow fluorenscence immunmicrobeads method was used to detect the genotypes of 381 specimens; simultaneously, the gap-PCR and PCR-RDB were for the comparison of diagnostic capabilities and the consistent rates. Results 216 cases of 381 specimens were detected as thalassemia by PCR-flow fluorenscence immunmicrobeads assay, with the detection rate of 43.31%, including 114 of α-thal, 42 of β-thal and 7 of αβ-thal. The common genotypes of α-thal were--^（SEA）,-α^（3.7） and-α^（4.2）. The main genotypes of β-thal were CD41-42, IVS-II-654 and CD17. Compared the two methods,the sensitivity, specificity, positive predictive value, negative predictive value and total consistent rate were100%, which showed that the two methods were completely consistent. Conclusion PCR-flow fluorenscence immunmicrobeads assay has the advantages of speediness, accuracy, simplicity, practicality and high throughput, which can be used for genetic diagnosis of thalassemia.
出处
《热带医学杂志》
CAS
2018年第1期36-39,共4页
Journal of Tropical Medicine
