一例日本克雅氏病患者，其朊蛋白基因第210密码子存在点突变。
A Japanese case of Creutzfeldt-Jakob disease with a point mutation in the prion protein gene at codon 210.
作者信息
Furukawa H, Kitamoto T, Hashiguchi H, Tateishi J
机构信息
Department of Neurology, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
出版信息
J Neurol Sci. 1996 Sep 15;141(1-2):120-2. doi: 10.1016/0022-510x(96)00157-8.
PMID:8880705
Abstract
We screened 111 cases of sporadic Creutzfeldt-Jakob disease (CJD) and 75 healthy control subjects in Japan to detect possible polymorphisms in their prion protein gene (PRNP). We identified a G-to-A point substitution at codon 210, leading a valine-to-isoleucine change, in a 69-year-old CJD patient. This substitution was not seen in 75 healthy control subjects.
摘要
我们对日本的111例散发性克雅氏病（CJD）患者和75名健康对照者进行了筛查，以检测其朊蛋白基因（PRNP）中可能存在的多态性。我们在一名69岁的CJD患者中发现密码子210处发生了G到A的点突变，导致缬氨酸变为异亮氨酸。在75名健康对照者中未发现这种突变。
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