【摘要】 目的：寻找一种快速诊断东南亚缺失型α地中海贫血（α地贫）１的方法。方法：用多聚酶链反应（ＰＣＲ）检测７６例门诊患者。结果：检出３１例东南亚缺失型α地贫１，其中５６例受检者与检测ζ珠蛋白肽链检测α地贫１的方法相对照，符合率８３．９３％。用该方法对１０例α地贫进行了产前诊断，诊断出１例为Ｂａｒｔ’ｓ水肿胎儿，４例是东南亚缺失型α地贫１的携带者，其余５例是正常胎儿或α地贫２的携带者。结论：该法简捷、易行、准确性高，为α地贫胎儿产前诊断及α地贫基因的检测提供一种新方法。更多还原

【Abstract】 Objective:To explore a rapid method for diagnosing α thalassemia 1 of Southeast Asia type.Methods:Seventy six patients were detected by polymerase chain reaction (PCR).Results:Thirty one patients were diagnosed as α thalassemia 1 of Southeast Asia type.PCR was compared with polyacrylamide gel electropheresis for detecting ζ globin chain in 56 patients and the correspondance rate was 83 93% .Ten cases of prenatal diagnosis were performed by PCR, and the results showed that one was Hb bart’s hydrop fetalis,four were carriers of α thalassemia 1 of Southeast Asia type ,and the others were normal fetalis or carrier of α thalassemia 2 .Conclusion:The PCR method is simple and accurate for diagnosing α thalassemia of Southeast Asia type ,and it provides a new approach to the prenatal diagnosis of α thalassemia fetalis and the detection of α globin gene cluster.更多还原