一种与朊蛋白基因新插入相关的痴呆症。
A dementing illness associated with a novel insertion in the prion protein gene.
作者信息
Owen F, Poulter M, Collinge J, Leach M, Lofthouse R, Crow T J, Harding A E
机构信息
Department of Physiological Sciences, University of Manchester, U.K.
出版信息
Brain Res Mol Brain Res. 1992 Mar;13(1-2):155-7. doi: 10.1016/0169-328x(92)90056-h.
PMID:1349721
Abstract
Following our previous report of an 144-bp insertion in the open reading frame of the prion protein (PrP) gene, we have now identified a larger, 216-bp, insertion in the gene. The insertion which is in frame encodes 9 extra octapeptide repeat sequences in addition to the 5 repeats normally present and represents the largest insertion so far detected in the PrP gene.
摘要
继我们之前报道朊病毒蛋白（PrP）基因开放阅读框中存在144 bp的插入之后，我们现在又在该基因中鉴定出一个更大的216 bp插入。该插入处于读码框内，除了正常存在的5个重复序列外，还编码9个额外的八肽重复序列，代表了迄今为止在PrP基因中检测到的最大插入。
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