title: Silent APC (adenomatous polyposis coli) gene polymorphism in the Portuguese population.
abstract: We describe a new, silent polymorphism in exon 15 of the APC gene on chromosome 5q in the Portuguese population. The polymorphism is located at codon 1442 and results in a CCT-->CCA (Pro) base transversion, with no amino acid change. Population analysis in unrelated healthy controls indicated that the polymorphism was present in 2 out of 50 individuals giving an allele frequency of 0.02 +/- 0.01. The polymorphism is the most common encountered in the Portuguese population in the mutation cluster region of exon 15, and has not been previously described in other populations.
authors: Departamento de Genetica Humana, Instituto Nacional de Saude Dr. Ricardo Jorge, Lisboa, Portugal.
authors: B
authors: B
authors: Marshall
authors: G
authors: G
authors: Isidro
authors: M G
authors: MG
authors: Boavida
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D002895:Chromosomes, Human, Pair 5; D005091:Exons; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D005810:Multigene Family; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D011174:Portugal