家族性克雅氏病中朊蛋白基因的框内插入。

An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease.

作者信息

Owen F, Poulter M, Shah T, Collinge J, Lofthouse R, Baker H, Ridley R, McVey J, Crow T J

机构信息

Division of Psychiatry, Clinical Research Centre, Harrow, Middlesex, U.K.

出版信息

Brain Res Mol Brain Res. 1990 Apr;7(3):273-6. doi: 10.1016/0169-328x(90)90038-f.

DOI:10.1016/0169-328x(90)90038-f

PMID:2159587

Abstract

In a pedigree with Creutzfeldt-Jakob disease we identified a 144-bp insertion in the open reading frame of the prion protein (PrP) gene. The insertion is in-frame and codes for 6 extra uninterrupted octapeptide repeats in addition to the 5 that are normally present in the N-terminal region of the protein. The possibility that this mutation may prove relevant to elucidating the mechanism of horizontal transmission of the spongiform encephalopathies is discussed.

摘要

在一个患有克雅氏病的家系中，我们在朊病毒蛋白（PrP）基因的开放阅读框中鉴定出一个144碱基对的插入。该插入为框内插入，除了蛋白质N端区域正常存在的5个八肽重复序列外，还编码6个额外的不间断八肽重复序列。本文讨论了这种突变可能与阐明海绵状脑病水平传播机制相关的可能性。