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本文应用DNA限制性片段长度多态性(RFLP)连锁分析技术对来自浙江、湖南、广西的5例β-地中海贫血的高危妊娠孕妇进行产前基因诊断。通过用4种内切酶、5种DNA探针,对各家系成员DNA的8个多态性位点的分析,然后有选择地应用特异的内切酶和探针对胎儿进行分析诊断。在5例产前诊断胎儿中,有2例可作完全诊断,另有3例只能作排除诊断。
In this paper, prenatal genetic diagnosis of 5 high risk pregnant women with β-thalassemia from Zhejiang, Hunan and Guangxi was performed by RFLP linkage analysis. By using four kinds of endonucleases and five kinds of DNA probes, we analyzed the 8 polymorphic sites of DNA of each family member and then selectively analyzed the fetus with specific endonucleases and probes. In 5 cases of prenatal diagnosis of fetus, 2 cases can be completely diagnosed, while the other 3 cases can only be excluded from the diagnosis.