机构:[a]Department of Neurology, Xuanwu Hospital, Capital University of Medical Sciences, Beijing 100053, China神经内科首都医科大学宣武医院[b]Department of Neurology, The First People’s Hospital, Handan 056002, China
出处:
ISSN:
摘要:
This study is to explore whether there is presenilin 1 (PS1) gene mutation in Chinese familial Alzheimer's disease (FAD). There has been no such systemic research before in China. Using polymerase chain reaction, single strand conformation polymorphism (PCR-SSCP), followed by denaturing high performance liquid chromatograph (DHPLC) and DNA sequencing, we analyzed a Chinese family with early onset AD. The patients in this family showed a novel missense mutation in exon 4 of the PS1 gene (G to T change in codon 97), altering valine to leucine acid substitution. Because the change occurred in conserved domains of this gene, and is not present in normal controls, this novel mutation is likely to be causative of Chinese FAD.
第一作者机构:[a]Department of Neurology, Xuanwu Hospital, Capital University of Medical Sciences, Beijing 100053, China
通讯作者:
通讯机构:[a]Department of Neurology, Xuanwu Hospital, Capital University of Medical Sciences, Beijing 100053, China
推荐引用方式(GB/T 7714):
Jianping Jia,Erhe Xu,Yankun Shao,et al.One novel presenilin-1 gene mutation in a Chinese pedigree of familial Alzheimer's disease.[J].JOURNAL OF ALZHEIMERS DISEASE.2005,7(2):119-124.
APA:
Jianping Jia,Erhe Xu,Yankun Shao,Jianmin Jia,Yongxin Sun&Dan Li.(2005).One novel presenilin-1 gene mutation in a Chinese pedigree of familial Alzheimer's disease..JOURNAL OF ALZHEIMERS DISEASE,7,(2)
MLA:
Jianping Jia,et al."One novel presenilin-1 gene mutation in a Chinese pedigree of familial Alzheimer's disease.".JOURNAL OF ALZHEIMERS DISEASE 7..2(2005):119-124