中国汉族人群中PRNP基因第219位氨基酸多态性分布及临床特征分析

目的研究人类PRNP基因第219位氨基酸多态性在中国汉族人群中的分布及临床特征。方法从送检病例外周血中提取DNA,进行聚合酶链反应获得PRNP基因片段,通过测序的方法分析第219位氨基酸多态性的分布,并且结合临床资料分析其临床特征。结果在收集的467例汉族人群中,219E/E型分布频率为98.3%(459/467),219E/K型分布频率为1.7%(8/467)。在这些病例中,散发型克雅氏病患者临床及疑似诊断病例的首发症状最多见的为快速进行性痴呆,在临床症状中临床诊断病例比疑似诊断病例具有更多典型的临床表现。结论中国汉族人群中PRNP基因第219位氨基酸多态性分布以219E/E型为主,散发型克雅氏病临床诊断病例具有更多的临床表现。

Clinical characteristics and polymorphism of the amino acid 219 on PRNP gene in Han Chinese patients with Creutzfeldt-Jakob disease

Objective To analyze the clinical characteristics and study the polymorphism of the 219th amino acid （219aa） on PRNP gene in Han Chinese patients with Creutzfeldt-Jakob disease （CJD） . Methods DNA was extracted from the peripheral blood samples of Chinese Han patients collected in 12 surveillance provinces/districts of China from 2012 to 2013. Fragments of PRNP gene was amplified with a specific PCR method. Results A total of 467 Chinese Han CJD patients were recruited. Among these patients, allele 219E/E and 219E/K account for 98.3% and 1.7%, respectively in Han Chinese CJD patients. Rapidly pro- gressive dementia is the foremost symptom in clinical diagnosed sporadic CJD and the suspected patients. Clinial diagnosed sporadic CJD showed more clinical symptoms that suspected cases. Conclusions 219E/E is the main genotype of Creutzfeldt-Jakob disease in Chinese Han population of China. The foremost symptom is rap- idly progressive dementia.