A novel non-pathogenetic polymorphism of the APC gene in a patient with familial adenomatous polyposis coli.
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.
Ogiso
Y
Y
Department of Laboratory Medicine, Shinshu University School of Medicine, Matsumoto, Japan. yogiso@coral.ocn.ne.jp
Ueno
I
I
Fujimori
M
M
Fukushima
Y
Y
Katsuyama
T
T
D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D003062:Codon / Q000235:genetics; D005091:Exons / Q000235:genetics; D017491:Genes, APC / Q000235:genetics*; D018095:Germ-Line Mutation / Q000235:genetics; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D014364:Tryptophan / Q000235:genetics
D003062:Codon; D014364:Tryptophan; D001120:Arginine