Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients.
作者： Takehiko Sasazuki , Joji Utsunomiya , Shozo Baba , Akira Horii , Yusuke Nakamura
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摘要: Recently we have isolated the adenomatous polyposis coli (APC) gene which causes familial (FAP), and its germ-line mutations in a substantial number of FAP patients been identified. On basis this information, compared location APC 22 unrelated (12 whom reported previously) with colorectal polyps developed patients; 17 were sparse types five profuse types. All but one considered to cause truncation product by frame-shift due deletion (14 cases) or nonsense mutation (seven cases). The seems correlate two clinical types; observed between codon 1250 1464, whereas fewer other regions gene. result suggests that may be associated difference stability biological function truncated protein.
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