Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy
Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy
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DOI：
10.1002/ana.10267
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发表时间：
2002-09-01
影响因子：
11.2
通讯作者：
Goldfarb, LG
中科院分区：
文献类型：
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作者：
Dagvadorj, A;Petersen, RB;Goldfarb, LG
我们分析了与PrNP D178N突变相关的传染性海绵状脑病患者的PrNP基因区域。结果表明，D178N染色体在每个患病家系或明显的散发病例中具有独立的起源。观察到一种从头自发的PRNP突变。我们提供的证据表明，与D178N突变相关的遗传性和明显散发的遗传性海绵状脑病病例是由多个反复发生的突变事件引起的。
We analyzed the prion protein gene (PRNP) region in patients with transmissible spongiform encephalopathy associated with the PRNP D178N mutation. The results suggest that the D178N chromosomes had independent origins in each affected pedigree or apparently sporadic case. A de novo spontaneous PRNP mutation was observed. We provide evidence that hereditary and apparently sporadic transmissible spongiform encephalopathy cases associated with the D178N mutation result from multiple recurrent mutational events.