PCR联合RDB技术检测β-地中海贫血基因结果分析

Effect of PCR combined with RDB in the detection of β-thalassemia gene

目的探讨PCR联合RDB技术检测β-地中海贫血基因的特异性和敏感性。方法选取在我院体检的50例β-地中海贫血基因携带者,随机分为两组各25例,对照组采用RDB技术检测,观察组利用PCR联合RDB技术检测β-地中海贫血基因携带者标本,比较两组患者的检测结果并进行统计学分析其特异性和敏感性。结果观察组患者在β-地中海贫血患者中,有11例患者β41-42(-TCTT)发生突变,约占44%,6例患者IVS-Ⅱ654(C→T),约占24%,还有3例患者β17(A→T)发生改变,约占12%;TATA盒-28(A→T)的有2例,约占8%;β71-72(+A)者1例,占4%;无法检测的有2例,约占8%。对照组检测率分别为32%、16%、12%、4%、8%和28%,两组相比,差异均具有统计学意义(P<0.05)。结论 PCR联合RDB技术检测β-地中海贫血基因与单用RDB技术检测相比较具有更高敏感性、特异性;同时联合检查具有高通量和快速的特点,可同时检测5个已知突变或未知突变;此外联合检查还可以进行质量控制,与传统检测方法相比具有成本低的优势。

Objective To study the specificity and sensitivity of detectingβ-thalassemia gene by PCR combined with RDB.Methods Fiftyβ-thalassemia gene carriers collected in our hospital were randomly divided into two groups.The control group （n=25） applied RDB technology for detection,while the observation group （n=25） used PCR and RDB for detection ofβ.thalassemia gene carriers.The detection results of the two groups were compared and statistically analyzed.The specificity,sensitivity were analyzed.Results Of these patients in the observation group,11 （44％） cases were β41-42（-TCTT）,6 （24％） cases were IVS-Ⅱ 654 （C→T）,3 （12％） cases were β17 （A→T）,2（8％） cases were TATAboxes-28 （A→T）,1 （4％） case was β71-72（＋A）,and 2 （8％） cases were not detected,which were 32％,16％,12％,4％,8％ and 28％ in the control group.The specificity and sensitivity of PCR combined with RDB technology were higher,compared with RDB detection technology.Conclusion Compared with RDB,PCR combined with RDB in the detection ofβ.thalassemia gene has higher sensitivity,specificity,which is fast and with high throughput.It can simultaneously detect five known mutations or unknown mutation.Besides,it is easy for quality control,and has the advantages of low costs.