许多人类遗传病具有较高的突变异质性,每个家庭都携带特定起源的突变。为了利用现有自然突变资源,有必要研究快速识别基因缺陷的方法,目前已将这种方法用于血友病B的研究。为迅速显示血友病突变的特征,用PCR扩增技术分离了该基因的区域,通过直接检测基因缺陷,可做出血友病B的携带者诊断及产前诊断。提高预期诊断成功率60～100%。 Many human genetic diseases have a high mutation heterogeneity and each family carries a mutation of a specific origin. In order to utilize existing natural mutation resources, it is necessary to study methods for rapidly identifying genetic defects, and this method has been used to study hemophilia B at present. To rapidly characterize the mutation in hemophilia, the region of this gene was isolated by PCR amplification and the carrier diagnosis and prenatal diagnosis of hemophilia B were made by direct detection of genetic defects. Improve the expected diagnostic success rate of 60 to 100%.