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发明公开
CN104212910A 单管扩增同时检测α和β地中海贫血基因试剂盒 有权 转让

单管扩增同时检测α和β地中海贫血基因试剂盒
摘要：
本发明公开了一种单管扩增同时检测α和β地中海贫血基因的试剂盒，包括：（1）一个基因芯片，其上带有探针，探针为SEQIDNo:1-37和SEQIDNo:1-37互补的序列；（2）一组用于多重PCR的引物，为SEDIDNo.38-46。本发明所述地贫基因检测试剂盒在同一个反应管中同时实现α-地贫基因扩增和β-地贫基因扩增，可同时检测3种缺失型α-地贫（--SEA、-α3.7和-α4.2）、3种突变型α-地贫（CS、QS、WS）以及19种突变型β-地贫。在同一个反应管中同时扩增α-地贫基因和β-地贫基因，可大大提高诊断效率和诊断准确性、降低成本、缩短检测时间，对开展地贫人群筛查，遗传咨询和产前诊断具有重大的意义。
摘要（英）：

The invention discloses a single-tube amplification kit for simultaneously detecting alpha and beta thalassemia genes, and the kit comprises (1) a gene chip on which a probe is arranged as SEQID No:1-37 and its complementary sequence; (2) one group of primers which is used for multiple PCR (polymerase chain reaction) and regarded as SEDID No. 38-46. Through the kit, alpha and beta thalassemia genes can be simultaneously amplified in the same reaction tube, and three deleted alpha-thalassemia genes (SEA, -alpha 3.7 and -alpha 4.2), three mutant alpha-thalassemia genes (CS, QS and WS) and 19 mutant beta-thalassemia genes can be simultaneously detected. In the same reaction tube, alpha-thalassemia genes and beta-thalassemia genes can be also simultaneously amplified, thereby greatly improving the diagnostic efficiency and accuracy, reducing the cost and shortening he detection time, thus the kit has the great significance of thalassemia crowd screening, genetic counseling and antenatal diagnosis.

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