One novel presenilin-1 gene mutation in a Chinese pedigree of familial Alzheimer's disease

Article type: Research Article

Authors: Jia, Jianping^{a; *} | Xu, Erhe^a | Shao, Yankun^a | Jia, Jianmin^b | Sun, Yongxin^a | Li, Dan^a

Affiliations: [a] Department of Neurology, Xuanwu Hospital, Capital University of Medical Sciences, Beijing 100053, China | [b] Department of Neurology, The First People's Hospital, Handan 056002, China

Correspondence: [*] Corresponding author: Prof. Jianping Jia, Department of Neurology, Xuanwu Hospital, Capital University of Medical Sciences, Beijing 100053, China. Tel.: +8610 63013355 ext 2730; Fax: +8610 83171070; E-mail: jjpneuro@public3.bta.net.cn.

Abstract: 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.

Keywords: familial Alzheimer's disease, presenilin 1, gene mutation

DOI: 10.3233/JAD-2005-7204

Journal: Journal of Alzheimer's Disease, vol. 7, no. 2, pp. 119-124, 2005