The clinical features in Chinese patients with PRNP D178N mutation
The clinical features in Chinese patients with PRNP D178N mutation
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中国PRNP D178N突变患者的临床特征
DOI：
10.1111/ane.12924
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发表时间：
2018-08-01
影响因子：
3.5
通讯作者：
Zhang, J. -W.
中科院分区：
文献类型：
--
作者：
Chen, S.;He, S.;Zhang, J. -W.
致死性家族性失眠症（FFI）是一种常染色体显性遗传疾病，其原因是PRNP基因第129位密码子的D178 N突变与纯合蛋氨酸（Met）偶联。一般认为，D178 N突变病例中129例M/M纯合子为FFI，129例V/V为遗传性CJD。而中国人群中129个Met等位基因的频率远高于高加索人群。本研究旨在探讨中国人D178 N突变体的临床特征和遗传学特征。
Fatal familial insomnia (FFI) is an autosomal dominant disease due to the D178N mutation of PRNP gene coupling with homozygous methionine (Met) at codon 129. It is generally considered that D178N mutation cases with 129 M/M homozygotes present as FFI, and 129 V/V as genetic CJD. However, the frequency of 129 Met alleles in Chinese population is much higher than that in Caucasians. This study aims to investigate the clinical features and genetic characteristics of Chinese D178N mutants in this genetic context.