7例散发性Creutzfeldt-Jakob病患者的PRNP和APOE基因突变/变异检测及其临床意义  

PRNP and APOE gene analysis in 7 patients of sporadic Creutzfeldt-Jakob disease

作　　者：罗曼[1,2] 李骄星[2] 孙逊沙[2] 盛文利[2] 

机构地区：[1]广西医科大学第一附属医院神经内科,广西南宁530021 [2]中山大学附属第一医院神经内科,广东广州510080

出　　处：《中风与神经疾病杂志》2012年第8期729-731,共3页Journal of Apoplexy and Nervous Diseases

基　　金：国家自然科学基金(No.81070912);广西壮族自治区卫生厅自筹经费科研课题(No.Z2012096)

摘　　要：目的探讨散发性Creutzfeldt-Jakob病(CJD)与朊蛋白(PRNP)基因、载脂蛋白E(APOE)基因突变/变异的关系。方法对临床很可能的7例CJD患者的PRNP基因的开放阅读框架及APOE基因第四外显子进行PCR扩增,产物直接测序,异常者重复测序。结果发现1例患者存在PRNP基因E200K杂合突变,6例患者为PRNP基因129基因型MM,1例患者存在APOE基因ε4等位基因。结论 PRNP基因E200K突变为CJD致病性突变,129MM基因型与散发性CJD易感性相关,APOE基因ε4等位基因可能与散发性CJD进展有关。Objective To study the association between PRNP gene and APOE gene variation with sporadic Creutzfeldt-Jakob disease（CJD） in Chinese Han population.Methods The study group consisted of 7 sporadic CJD patients.Genomic DNA was extracted from peripheral blood leucocytes of all subjects followed by in vitro amplification using polymerase chain reaction（PCR）.The PCR products were directly sequenced.Results The E200K mutations of PRNP gene was detected in a patient,and 129MM polymorphism was detected in another patient.The ε4 allele of APOE gene was found in ather patient.Conclusion The E200K mutations of PRNP gene are probably pathogenic.The 129MM polymorphism is associated with sporadic CJD.Combined with the clinical data,the ε4 allele of APOE gene in the patient may be associated with sporadic CJD.

关 键 词：散发性CJD PRNP基因 APOE基因 突变 单核苷酸多态性 

分 类 号：R742[医药卫生—神经病学与精神病学]