基础医学与临床 ›› 2009, Vol. 29 ›› Issue (6): 589-592.

• 研究论文 • 上一篇    下一篇

中国人家族性腺瘤性息肉病的基因型与临床表型的关系分析

崔伟佳 盛剑秋 陆晓娟 付蕾 孟晓明 张明智   

  1. 郑州大学第一附属医院肿瘤科 北京军区总医院消化内科
  • 收稿日期:2009-04-13 修回日期:2009-04-23 出版日期:2009-06-25 发布日期:2009-06-25
  • 通讯作者: 盛剑秋

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,

摘要: 目的 分析中国人家族性腺瘤性息肉病(FAP)的基因型与表现型的相关关系。 方法 14个经过了APC基因胚系突变检测的FAP家系患者,将所发现的APC基因胚系突变类型与临床特征进行综合分析。结果 位于密码子443、779、1062、1068、1309、1308、1394、c.657+1和c.532-2 微小突变的患者均表现为密集型息肉病,2例大片段缺失的患者表现为中间型息肉病,3例APC基因突变阴性的患者中2例表现为中间型息肉,1例表现为衰减型息肉病, 结论 中国人密集型息肉病APC基因突变范围较西方报道的位于密码子1250~1464之间广。

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.