Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene.

摘要: The first 14 exons of the APC gene have been screened by denaturation gradient gel electrophoresis method in 160 unrelated patients with familial adenomatous polyposis coli (APC) syndrome. Four polymorphic variants corresponding to silent mutations not associated disease phenotype were observed. Mutations predicted alter coding property observed 26 patients. All these are expected lead either aberrant splicing, synthesis a truncated protein because emergence stop codon, or change translation reading frame. Single-base-pair substitutions on 21 occasions. most frequent mutation (eight cases) was C-to-T which exclusively occurred nontranscribed strand within CG dinucleotide.