【摘要】 目的　用荧光定量聚合酶链式反应 (PCR)方法进行种植前β-地中海贫血一种中国人常见突变类型 CD4 1/ 4 2 (- TCTT)的基因诊断。　方法　来源于β-地中海贫血病人或携带者的 2 89个淋巴细胞和人体外受精 -胚胎移植志愿者剩余的胚胎分离 137个单细胞用荧光定量 PCR方法进行分析。　结果　用单个淋巴细胞诊断β-地中海贫血扩增效率达 96 % ,准确率达 99%～ 10 0 % ,等位基因丢失 (ADO)率仅 0～ 5 %。单个胚胎细胞扩增效率 86 %。　结论　荧光定量 PCR技术是一种敏感、快速、可靠和准确的技术 ,适合包括β-地中海贫血在内的单基因疾病的种植前诊断。更多还原

【Abstract】 Objective A recently developed system for fluorescence real-time quantitative polymerase chain reaction(PCR) to detect three types of β-thalassemia mutations[CD41/42 (-TCTT)], which accounted for about 40 % of all β-thalassemia alleles in Chinese and to prepare for clinical PGD of β-thalassemia. Methods 289 lymphocytes of β-thalassemia patients or carriers and 137 human blastomeres were analyzed by real-time quantitative PCR. Results Real-time quantitative PCR has high sensitivity,high reliability (96 %),and high accuracy(99 %～100 %)rates for β-thalassemia diagnosis in single lymphocytes and can reduce allelic dropout (ADO) rates to 0～5 %.High reliability (86 %) have been achieved in human blastomeres.All the results were confirmed by DNA amplification and reverse dot blot hybridization. Conclusion Real-time quantitative PCR proves to be a sensitive,convinient,reliable and accurate technique for PGD of β-thalassemia as well as other monogenic disorders.更多还原