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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 of hemophilia A were analyzed by PCR and 4 cases were diagnosed as prenatal. The method of gene diagnosis should be selected by first amplifying the specific DNA fragment required by PCR followed by RFLPs analysis of Bcll, further analyzing the uncalibrated specimens of BclI using RFLPs of XbaI, and other specimens that can not be diagnosed by XbaI Southern blot analysis of DNA probes with a diagnostic rate of 85%.