ID 111720
タイトル別表記
FAMILIAL ALZHEIMER’S DISEASE
著者
Kudo, Eiji The University of Tokushima
Ii, Kunio The University of Tokushima
Iwahana, Hiroyuki The University of Tokushima
Hizawa, Kazuo The University of Tokushima
資料タイプ
学術雑誌論文
抄録
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.
掲載誌名
Biomedical Research
ISSN
1880313X
03886107
cat書誌ID
AA12050384
AA00110128
出版者
バイオメディカルリサーチプレス
14
3
開始ページ
223
終了ページ
231
発行日
1993
EDB ID
出版社版DOI
出版社版URL
フルテキストファイル
言語
eng
著者版フラグ
出版社版
部局
歯学系
先端酵素学研究所