Abstract:Abstract: Objective:To establish and evaluate a globin gene copies relative quantitation method for the rapid detection of α-thalassemia --SEA、-α3.7 and -α4.2 genotypes. Methods:The quadruple TaqMan real-time fluorescence PCR combined with 2-ΔΔCt data analysis was established to simultaneously detect the relative copies of ψα, α2 and α1 genes for the rapid diagnosis of deletion genotypes of α-thalassemia. Then, 28 samples with known deletions of α-thalassemia genotypes and 309 clinical samples were detected by the established method, and the obtained results were compared with those from gap-PCR to evaluate the accuracy and practicality of the method. Results:The amplification efficiency of the established detection system was close to 100%. The accuracy of the detection system for the results of 28 samples with known deletions of α-thalassemia genotypes and 309 clinical samples was up to 100%. Moreover, the false negative and false positive caused by a small amount or trace of foreign contamination could be effectively eliminated. Conclusion:The established detection system based on globin gene copies relative quantitation technique could detect the deletions of α-thalassemia --SEA、-α3.7 and -α4.2 genotypes simply, rapidly and accurately, which was suitable for the large scale population screening and routine molecular diagnosis.