用DNA扩增法诊断血红蛋白病

DIAGNOSIS OF HEMOGLOBINOPATHY BY ANALYSIS OF AMPLIFIED DNA

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 paper describes a rapid and highly sensitive method for gene diagnosis of genetic disease—DNA amplification in vitro with polymerase chain reaction,and its application to the prenatal diagnosis ofα-andβ-thalassemia and to the detection of the hemoglobin S gene.Polymerase chain reaction can take place in lysed amniotic fluid cells or chorionic villus samples without prior DNA extraction,or in the DNA extracted from dried blood spots on filter paper blotters.The analysis of the amplified DNA does not require radioactive DNA probe and Southern hybridization.Prenatal gene diagnosis can be accomplished within 5 hours.