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Mutational screening of APP gene in patients with early‐onset Alzheimer disease utilizing mismatched PCR‐RFLP
Author(s) -
Nishiwaki Yumiko,
Kamino Kouzin,
Yoshiiwa Aoi,
Nagano Keiko,
Takeda Masatoshi,
Tanabe Hirotaka,
Nishimura Tsuyoshi,
Kobayashi Toshiko,
Yamamoto Hideki,
omura Yasuhiro,
Yoneda Hiroshi,
Sakai Toshiaki,
Imagawa Masaki,
Miki Tetsuro,
Ogihara Toshio
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb03269.x
Subject(s) - missense mutation , exon , genetics , gene , biology , mutation , restriction fragment length polymorphism , amyloid precursor protein , gene mutation , alzheimer's disease , disease , microbiology and biotechnology , polymerase chain reaction , medicine , pathology
To elucidate the frequency of mutations of the β/A4 amyloid protein precursor (APP) gene in early‐onset Alzheimer disease, we designed a mismatched PCR‐RFLP that can identify all kinds of missense mutations at codon 717 in addition to the seven kinds of known mutations at exon 17. When we screened mutations at exon 17 utilizing this method and the double missense mutations at exon 16 of the APP gene by PCR‐RFLP, no cases revealed mutations of the APP gene among 13 familial and 54 sporadic cases, except one family (OS‐1) that had previously been reported and used as a positive control of APP717(Val → Ile). Our results support the hypothesis that mutations in the APP gene are not major causes in early‐onset Alzheimer disease.