设计了5种针对中国人常见β-地贫突变的单碱基错配引物,即在引物的3′端附近引入一个与模板错配的碱基。用此引物进行多聚酶链式反应,可使扩增产物中创造出能区别正常和突变β-珠蛋白等位基因的限制性酶切位点,藉此人工限制性片段长度多态性即可确诊样品的基因型。用此法分析了45例β-地贫DNA样品,并完成13个β-地贫高风险胎儿的产前诊断,其结果与ASO探针杂交法一致。 Five single-base mismatch primers targeting the common β-thalassemia mutations were designed in China, ie, a base mismatch with the template was introduced near the 3 ’end of the primer. Polymerase chain reaction with this primer allows for the creation of restriction enzyme sites in the amplified product that distinguish normal from mutant β-globin alleles, allowing artificial restriction fragment length polymorphism The genotype of the sample. Using this method, 45 samples of β-thalassemia were analyzed and the prenatal diagnosis of 13 β-thalassemia high-risk fetuses was completed. The results were consistent with the ASO probe hybridization.