【摘要】 目的：探讨α与β地中海贫血双重杂合子的基因诊断。方法：采用聚合酶链反应（ＰＣＲ）和β地中海贫血等位特异寡核苷酸探针／反向点杂交（ＡＳＯ／ＲＤＢ）技术，对在遗传咨询和地中海贫血产前诊断病例中发现的６例疑为α与β地中海贫血双重杂合子个体，分别进行了α地中海贫血基因和β地中海贫血基因分析。结果：该６个病例均属东南亚缺失型α地中海贫血１和β地中海贫血双重杂合子（－－ＳＥＡ／αα，βＴ／βＡ），其中３例为α地中海贫血１和β４１４２（－ＴＣＴＴ），２例为α地中海贫血１和β－２８（Ａ→Ｔ）和１例α地中海贫血１与βＩＶＳⅡ６５４（Ｃ→Ｔ）双重杂合子。结论：α与β地中海贫血双重杂合子的检出对临床准确开展产前诊断有重要意义更多还原

【Abstract】 Objective:To perform genetic diagnosis of α and β thalassemia dual heterozygotes.Methods:PCR and β thalassemia allele specific oligonucleotide probe/reverse dot blot(ASO/RDB) techniques were used.Results:Six cases of suspected α thalassemia 1 and β thalassemia daul heterozygotes were found in genetic counseling and prenatal diagnosis.On genetic diagnosis,they were all Southeast Asia(SEA) type of α thalassemia 1 and β thalassemia (-- SEA /αα, β T/β A)dual heterozygotes. Out of them, 3 cases were α thalassemia 1 and β 41 42(-TCTT), 2 were α thalassemia 1 and β-28(A→T) and 1was α thalassemia 1 and β IVS Ⅱ 654(C→T) double heterozygotes.Conclusion:The detection of thalassemia dual heterozygotes facilitates the prenatal diagnosis with more precision.更多还原