摘要目的：以6种临床常见突变型为研究对象，建立一种快速检测β-地中海贫血的新方法。方法收集重庆市大坪医院2015年1至12月正常野生型标本50份和6种临床常见突变型标本42份，PCR扩增外周血β-珠蛋白基因，扩增产物与独立设计的连接检测反应-制式连接探针（ LDR-ULP）体系杂交后，荧光定量PCR检测突变类型，琼脂糖电泳验证检测结果，标本梯度稀释法分析LDR-ULP结合荧光定量PCR方法的灵敏度， Kappa检验分析与反向膜杂交法的检测一致性。结果LDR-ULP杂交反应与多重连接探针扩增技术（ MLPA）相比可提高杂交效率2.53倍，经荧光定量PCR扩增后，6种临床常见突变型均出现了明显的扩增曲线，而正常野生型则在40个循环内均无明显扩增曲线。本方法在DNA标本大于5 pg范围内均能得到明显的扩增曲线，对92份临床外周血标本DNA进行检测，本研究方法与反向膜杂交方法结果一致率为100％。结论本研究通过LDR-ULP技术的特异性，结合荧光定量PCR方法的灵敏性和实时快速的特点，建立了一种操作简便、价格低廉、检测快速的β-地中海贫血的检测新方法。（中华检验医学杂志，2016，39：766-770）

abstractsObjective To establish a new method for rapid detection of β-thalassemia by investigating six clinical common mutation types.Methods Fifty cases of clinical wild-type samples and 42 cases ofβ-thalassemia samples were collected, and β-globin gene was amplified by PCR.Uniform ligation probe ( ULP) specific probes were designed for hybridization reaction to increase the reaction specificity and real-time PCR was performed to increase the sensitivity.After that, PCR products were verified by agarose electrophoresis.After examining the specificity and sensitivity, Kappa test between LDR-ULP method and reverse dot blot( RDB) method was conducted.Results Hybridization efficiency was improved 2.53 times by LDR-ULP hybridization.Each mutant type showed a significant amplification curve, whereas the wild-type had no significant curve within 40 cycles.The limit of determination of this method was 5 pg.The results of 92 cases of peripheral blood samples detected by the method of LDR-ULP and RDB were completely consistent.Conclusion In this study, a simple, inexpensive, rapid new method to detect β-thalassemia were established.