国人Creutzfeldt—Jakob病PrP基因表达变化的研究

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。

PrP Gene Study of Chinese Creutzfeldt-Jakob Disease

Three questions were raised for study: 1. Are there a mutation of PrP gene in our CJD cases? 2. What kinds of mutation of PrP gene could be found? 3. Is there difference in mutation of PrP gene between our CJD cases and Europe cases? Methods Gene analysis of 5 cases with CJD were carried out using the extracted high molecular weight DNA from peripheral blood lymphocytes of patients. 14 non-CJD dementia cases and 16 health subjects were chosen as control groups. The PrP coding region was amplified by the polymerase chain reaction (PCR ) with primer T-1 and T 2, checked with seven kinds of restriction enzymes and sequenced by ABI 377. Results Codon 129 polymorphism heterozygous Val/Met were revealed in one case of each group. There was methionin 129 homozygous in the other cases of three groups. codon 129 Val/Val homozygous were not found. Conclusion The percentage of occurrence of polymorphism of PrP gene was much higher in our CJD cases compared with that in Europe CJD cases. It might be related with characteristics of clinical aspects of our CJD cases.