PRNP基因八肽重复突变研究进展

Advance of the Research in Octapeptiae Repeat Mutation of PRNP Gene

某些遗传性朊病毒病,例如,家族性Creutzfeldt-Jakob病(fCJD)、GSS综合征均与PRNP基因八肽重复区插入突变相关。关于插入突变Prp分子的研究对于揭示遗传性朊病毒病发病机制具有重要意义。

Some cases of hereditary prion diseases, which include familial Creutzfeldt-Jakob disease and Gersmann-Straussler syndrome are linked to oetapeptide repeat insertional mutation in the PRNP gene. Many studies of PrP molecules with insertional mutation have-been carried out to understand the pathogenesis of familial forms of prion disease.