Chang J G, Chen C P, Ho H J, Lin C P, Lee L S, Chen P H
Department of Molecular Medicine and Clinical Pathology, Taipei Municipal Jen-Ai Hospital, Taiwan, ROC.
Int J Hematol. 1992 Oct;56(2):155-9.
We used the polymerase chain reaction (PCR) to amplify the breakpoint area of alpha-thalassemia-1 of Southeast Asia type and several parts of the alpha-globin gene cluster to make a differential diagnosis between alpha-thalassemia-1 and Hb Bart's hydrops fetalis. The procedure involved three primers to detect the homozygote of alpha-thalassemia-1, then amplifies the other alpha-globin gene cluster with three other pairs of primers to double check the results. The PCR products were checked again by allele specific probes. Twenty-two cases were diagnosed prenatally, two were normal, 17 were alpha-thalassemia-1, and three Hb Bart's hydrops fetalis. All cases were confirmed either by Southern blot hybridization or follow-up by sonography or after delivery. No false positive or false negative results were obtained by our strigent procedure. We conclude it to be a rapid, accurate and economic method.
我们采用聚合酶链反应（PCR）扩增东南亚型α地中海贫血-1的断裂点区域以及α珠蛋白基因簇的几个部分，以鉴别诊断α地中海贫血-1和巴氏水肿胎儿血红蛋白病。该程序包括使用3种引物检测α地中海贫血-1纯合子，然后用另外3对引物扩增其他α珠蛋白基因簇以复核结果。PCR产物再用等位基因特异性探针进行检测。22例进行了产前诊断，2例正常，17例为α地中海贫血-1，3例为巴氏水肿胎儿血红蛋白病。所有病例均通过Southern印迹杂交或超声随访或产后检查得以确诊。我们严格的程序未出现假阳性或假阴性结果。我们认为这是一种快速、准确且经济的方法。
