应用RT／PCR技术诊断地中海贫血综合征

DIAGNOSIS OF THALASSEMIA SYNDROMES WITH RT-PCR TECHNOLOGY

应用逆转录酶／聚合酶链反应技术，定量检测地中海贫血（地贫）患者的α、β和γ珠蛋白基因转录产物的相对含量。结果表明，β°和β￣＋地贫患者的α与β珠蛋白ｍＲＮＡ的相对比值（α／β）用较正常人分别增加１０倍和５倍以上，并出现γ珠蛋白ｍＲＮＡ相对含量的增加；而α地贫患者的α／β则随其α珠蛋白基因缺失的数目成比例地减少。我们介绍的方法为地贫综合征的分子诊断以及珠蛋白基因转录和表达的研究提供了一种灵敏和特异的新途径。

e have applied the technique of reverse transcrip-tase/polymerase chain reaction (RT-PCR) for the quan-titation of tiie relative amounts of α,β and γ-globin genetranscripts in the patients with thalassemia. The resultsshowed ratios of α/β globin mRNA more than 10-foldand more than 5-fold increased in the patietns with β-and β￣+ -thalassemia respectively, as well as a relative in-crease in γ-globin mRNA levels. Conversely, patientswith athalassemia showed a decreased ratio of α/βglobin mRNA proportional to the number of α-globingenes deleted. The methodology described in this articleprovided a new, sensitive and specific approach to themolecular diagnosis of thalassemias as well as to thestudies on globin gene transcription and expression.