甲型血友病产前诊断——应用DNA聚合酶链反应(PCR)进行家系RFLP连锁分析

The Prenatal Diagnosis of Hemophilia A——The Use of PCR and Family RFLP Analysis

应用PCR技术分析了7个甲型血友病家系,对其中4例做了产前基因诊断。基因诊断的方法选择应是:首先采用PCR法扩增所需的特异DNA片段,随之用Bcll的RFLPs分析;对BclI不能诊断的标本进一步用XbaI的RFLPs分析;对XbaI不能诊断的标本进行其他DNA探针的Southern印迹杂交分析,诊断率可达85％。

Seven families with hemophilia A were analyzed by using the polymerase chain reaction (PCR) technique. Prenatal diagnosis was perfomed in 4 cases at high risk of hemophilia A.The results suggested that the gene fragment of factor Ⅷ might be amplified by the simple, fast and sensitive PCR technique and is especially suited to prenatal diagnosis using very small amounts of chrionic villi or amniocytes. Restriction fragment length polymorphism (RFLPs) analysis of BelI was also performed. The sample, which could not be diagnosed by BelI could be analyzed with RFLPs of XbaI. Finally, DNA probe's Southern bloting analysis could be used for those samples which could not be diagnosed with XbaI. 85% of all hemophilia A cases could be diagnosed with our technique.