应用PCR和斑点杂交产前诊断α—地中海贫血

Prenatal Diagnosis of α-Thalassemia by PCR and Southern Blot

本文应用 PCR 体外基因放大,^(32)P、^(35)S 标记探针与 DNA 分子杂交等新方法进行产前诊断。对7例有 Bart's 胎儿水肿风险检测,确诊5例正常,2例为缺失四个α基因 Bart's 胎儿水肿综合征。技术简单、快速,在1至2天内就可以直接作出诊断结果。

This paper described a new method that applies the in vitro gene amplification by polymerase chain reaction(PCR)and ^(32)P,^(35)S la- belled α and β globin gene probe to do DNA moleclar hybridization for prenatal diagnosis.In detection of seven pregnancies at risk of Hb Bart's hydrops fetus,five cases were normal and tow cases were Hb Bart's hy- drops,they all deleted four α-globin gene.The method provides a simple, rapid and direct detection for the prenatal diagnosis of α-thalassemia within one to two days.