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Japanese Journal of Clinical Oncology 30:204-206 (2000)
© 2000 Foundation for Promotion of Cancer Research

A Novel Non-pathogenetic Polymorphism of the APC Gene in a Patient with Familial Adenomatous Polyposis Coli

Yoshifumi Ogiso1,2,5, Ichiro Ueno1,2, Minoru Fujimori2,3, Yoshimitsu Fukushima2,4 and Tsutomu Katsuyama1,+

1Department of Laboratory Medicine, 2Division of Clinical and Molecular Genetics, 3Second Department of Surgery and 4Department of Hygiene and Medical Genetics, Shinshu University School of Medicine, Matsumoto and 5Division of Clinical Pathology, Nagano Children’s Hospital, Nagano, Japan

Disorder: Familial adenomatous polyposis coli

Ethnicity of patient: Japanese

Gene: APC

GenBank accession number: M 74088

Chromosomal assignment: 5q21

Type of DNA variant: A germline missense mutation

A germline nonsense mutation

Mutation: CGG (Arg, wild type) to TGG (Trp) substitution at codon 88 in exon 3 of the APC gene

CGA (Arg, wild type) to TGA (term.) at codon 213 in exon 5 of the APC gene

Allelic frequency: <0.014 (missense mutation, TGG at codon 88)

Method of mutation detection: PCR–SSCP/direct sequencing

+ For reprints and all correspondence: Yoshifumi Ogiso, Division of Clinical Pathology, Nagano Children’s Hospital, 3100 Toyoshina, Nagano 399-8288, Japan. E-mail: yogiso@coral.ocn.ne.jp


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