Objective：To explore the characteristics of germline APC gene mutations in Chinese patients with familial adenomatous polyposis（FAP）. Methods： Six FAP patients （March 2004 to March 2005） were screened for germline mutation of APC gene by PCR-denaturing high-performance liquid chromatography and direct sequencing. Results： Mutations were identified in 3 patients from 6 unrelated families. The first and second mutation was at codon 1 509, resulting in an amino acid change from Arginine to Glutamine; the third mutation involved four base-pairs insertion in the sequence of AGAA at intron 14. Conclusion： Chinese FAP patients with same APC genotype mutation may have different phenotypes