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目的探讨国人朊病毒病PrP基因变异与临床病理变化的关系及同欧亚病例的对比。方法取5例散发型Creutzfeldt－Jakob病（CJD）患者静脉血提取DNA，以多聚酶联反应（PCR）扩增PrP基因，用7种限制性内切酶酶切密码子102、105、129、145、178、180、200、219和232位点及DNA序列测定，并设14例非CJD痴呆和16例健康人为对照。结果发现3组中各1例具密码子129多态性，为缬氨酸／甲硫氨酸杂合子，其余均为甲硫氨酸纯合子，无缬氨酸129纯合子。结论国人CJD患者PrP基因变异及其相关的临床特征与欧洲患者不同。
Objective To investigate the relationship between PrP gene mutation and clinicopathological changes in Chinese prion diseases and to compare with the cases in Eurasia. Methods DNA was extracted from venous blood of 5 patients with sporadic Creutzfeldt-Jakob disease (CJD), and PrP gene was amplified by polymerase chain reaction (PCR). The seven restriction enzymes were used to digest the codons 102, 105, 129, 145 , 178,180,200,219 and 232 sites and DNA sequence determination, and 14 cases of non-CJD dementia and 16 healthy controls. The results showed that 1 in each of 3 groups had codon 129 polymorphism, which was a valine / methionine heterozygote. The rest were all methionine homozygotes without valine 129 homozygote. Conclusion PrP gene mutations in Chinese CJD patients and their related clinical features are different from those in European patients.