摘要
东南亚型缺失突变(—SEA/)是我国α-地中海贫血的常见类型,其纯合子为致命的Bart′s胎儿水肿综合征。本文通过设计位于该突变基因断裂点两侧的3个引物,构成两对独立的PCR体系来鉴别样品基因型。样品DNA中有—SEA/突变时,扩增产生630bp左右的DNA片段,无此突变则出现224bp的扩增片段。经过对5例正常、6例—SEA杂合子和3例Bart′s水肿胎儿DNA的检测,证明本法能准确区分上述3种基因型。我们还将本法应用于一个HbQ复合HbH家系的基因分析和产前诊断,结合脐血电泳分析和Southern blotting结果,确定胎儿的基因型为(α α/-αHbQ)。本法简便快速,为α-地贫携带者的检测及产前诊断提供了一个有用手段。
Summary. α0 -thalassemia of the Southeast Asian type (-SEA/) is common
in South China, which, if homologous, results in hydrops fetalis and is fatal.we developed a new method fo rcarrier detection and prenatal diagnosis of this detetionwith PCR technique using three primers bridging the deletion breakpoints. A DNA fragment of about 630bp in size was amplified in case of-SEA alleles, while a 224 bp fragment was amplified in samples without the deletion. Homozygotes, heterozygotes, and normal subjects could be clearly distinguished with the present method. We used this method in the genotyping and prenatal diagnosis in a family with Hb Q associated with Hb H disease.Combined with the results of blood analysis and Southern blotting,the genotype of the fetus at risk was found to be α α/-αHbQ.The present method is simple and rapid in detection of carriers and prenatal diagnosis of the α0-thalassemia.
出处
《第一军医大学学报》
CSCD
1992年第3期183-187,共5页
Journal of First Military Medical University
关键词
地中海贫血
聚合酶链反应
产前诊断
α-thalassemia
polymerase chain reaction
prenatal diagnosis
