Novel polymorphisms of the amyloid precursor protein (APP) gene in Chinese/Taiwanese patients with Alzheimer's disease
Journal
Journal of Clinical Neuroscience
Journal Volume
16
Journal Issue
2
Pages
259-263
Date Issued
2009
Author(s)
Abstract
We aimed to determine if the amyloid precursor protein (APP) gene polymorphism is present in Chinese/Taiwanese patients with Alzheimer's disease (AD). This is a 3-year prospective assessment of the genotypes of the APP gene among Chinese/Taiwanese patients with AD. The sample consisted of 50 AD patients and 50 unaffected controls. Participants were recruited from the practices of the authors. Controls were comprised of 45 unrelated healthy subjects and 5 unaffected family members of AD patients. Data were collected in a university-based research unit of a tertiary medical center. Sequencing of the APP gene from exon 15 to exon 18 was performed on the peripheral blood of the patients and the unaffected controls after their informed consent was obtained. Among 50 AD subjects, 11 (7 men, 4 women) had APP gene polymorphisms. Mean age of onset was 72 years (range 65-82 years). Polymorphism of APP gene with A to C substitution at nucleotide position (nt) 284490 (A284490C) was found in 8 AD patients, at nt 284493 (A284493C) in 5, T284497C in 3 patients, and T284500C in 1 patient. These single nucleotide substitutions of the APP gene corresponded to the amino acid substitutions I718L, L720S, and V710G. These polymorphisms were not found in the unaffected controls. The mutations were confirmed by StyI restriction enzyme digestion assay using the subclone from polymerase chain reaction (PCR) products of the mutated APP gene. Thus, APP gene polymorphisms at codon 718 (I > L), 720 (L > S), and 710 (V > G) can be found in certain Chinese/Taiwanese patients with Alzheimer's disease. ? 2008 Elsevier Ltd. All rights reserved.
SDGs
Other Subjects
amyloid precursor protein; restriction endonuclease; sty1 enzyme; unclassified drug; aged; Alzheimer disease; article; blood; Chinese; controlled study; DNA polymorphism; female; genetic analysis; human; major clinical study; male; nucleotide sequence; polymerase chain reaction; priority journal; single nucleotide polymorphism; Taiwan; Aged; Aged, 80 and over; Alzheimer Disease; Amyloid beta-Protein Precursor; Asian Continental Ancestry Group; DNA Mutational Analysis; Female; Humans; Magnetic Resonance Imaging; Male; Polymorphism, Genetic; Prospective Studies; Taiwan
Type
journal article