prion蛋白是动物神经元细胞合成的通过磷酸肌醇系统锚定在细胞外表面的一种糖蛋白,该基因的突变是引起prion病(包括CJD、GSS、库鲁病等)的遗传基础。本文对该基因突变的文献资料进行综述,以引起国内医学界的注意。 Prion protein is a kind of glycoprotein synthesized by animal neurons and anchored on the outer surface of cells by phosphoinositide system. The mutation of this protein is the genetic basis of prion disease (including CJD, GSS, Kuru disease, etc.). This article summarizes the literature of the mutation in order to arouse the attention of the domestic medical community.