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本文介绍一种快速、灵敏的基因诊断技术——聚合酶链反应体外扩增DNA,及其在α-和β-地中海贫血产前诊断和HbS基因检测的应用。聚合酶链反应的样本可以直接用溶解的羊水细胞或绒毛标本,也可以用从干血纸片抽提的DNA。扩增DNA的分析毋需放射性DNA探针和Southern杂交,产前基因诊断可在5小时内完成。
This article describes a rapid and sensitive gene diagnostic technique - DNA amplification by polymerase chain reaction in vitro and its application in prenatal diagnosis of α- and β-thalassemia and HbS gene detection. Polymerase chain reaction of the sample can be directly dissolved in amniotic fluid cells or villi specimens can also be extracted from dried blood paper DNA. Analysis of amplified DNA without radioactive DNA probes and Southern hybridization, prenatal diagnosis can be completed within 5 hours.