ID 111720
Title Alternative
FAMILIAL ALZHEIMER’S DISEASE
Author
Kudo, Eiji The University of Tokushima
Ii, Kunio The University of Tokushima
Iwahana, Hiroyuki The University of Tokushima
Hizawa, Kazuo The University of Tokushima
Content Type
Journal Article
Description
Five different types of point mutation of the β-amyloid precursor gene (APP) have been reported to cosegregate with familial Alzheimer’s disease (FAD) in each of examined pedigrees (Table 1). Here we report a screening result of the APP gene mutations in two Japanese pedigrees with FAD of an early onset type which have previously been reported (2, 3). Primer pairs corresponding respectively to each of 19 exons of the APP gene were designed. Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis was performed on genomic DNA of one affected member from each of these two pedigrees. In addition, a pair of primers was designed to assess specifically codon 717 of the APP gene even in the poorly-preserved sample of genomic DNA. PCR-SSCP analysis of all 19 exons of the APP gene of both patients did not show any mutations, but disclosed one polymorphism in the intron 9. Sequencing of exons 16 and 17 of the APP gene in both patients, where all reported pathogenic mutations are located, revealed normal sequences. The results support that the genetic defect causing FAD is heterogeneous and that most cases with FAD are apparently due to the gene-defect of other than the APP gene.
Journal Title
Biomedical Research
ISSN
1880313X
03886107
NCID
AA12050384
AA00110128
Publisher
バイオメディカルリサーチプレス
Volume
14
Issue
3
Start Page
223
End Page
231
Published Date
1993
EDB ID
DOI (Published Version)
URL ( Publisher's Version )
FullText File
language
eng
TextVersion
Publisher
departments
Oral Sciences
Institute of Advanced Medical Sciences