Basic & Clinical Medicine ›› 2009, Vol. 29 ›› Issue (6): 589-592.

• 研究论文 • Previous Articles     Next Articles

Genotype-phenotype correlations in Chinese Familial adenomatous polyposis (FAP)

Wei-jia CUI, Jian-qiu SHENG, Xiao-juan LU, Lei FU, Xiao-ming MENG, Ming-zhi ZHANG   

  1. Department of Oncology,the First Affiliated Hospital of Zhengzhou University Department of Gastroenterology,PLA Beijing Military General Hospital
  • Received:2009-04-13 Revised:2009-04-23 Online:2009-06-25 Published:2009-06-25
  • Contact: Jian-qiu SHENG,

Abstract: OBJECTIVE: To analyze Genotype-phenotype correlations in APC gene and Familial adenomatous polyposis (FAP) of Chinese .METHODS:APC gene germline mutation was detected in 14 FAP families . The correlations between APC gene mutations type and clinical features were synthetically analyzed. RESULTS: The patients whose mutaions were identified at codon 443,779,1062,1068,1308,1309,1394, c.657+1 and c.532-2 manifested profuse polyposis, and the patients whose large fragment deletions were detected manifested intermediate polyposis, and three patients who had not mutation or large fragment deletion detected and two of them presented intermediate polyposis and one attenuated polyposis. CONCLUSION: The range of APC gene germline mutation site in Chinese profuse polyposis wider than Western countries which report is in codon 1250~1464.