Germline APC gene mutation in patients with familial adenomatous polyposis: A preliminary study
- Author:
Zheng LOU
1
Author Information
1. Department of General Surgery
- Publication Type:Journal Article
- From:
Academic Journal of Second Military Medical University
2006;27(4):358-361
- CountryChina
- Language:Chinese
-
Abstract:
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 ha ve different phenotypes.
