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  

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

作　　者：崔伟佳[1] 盛剑秋[2] 陆晓娟[2] 付蕾[2] 孟晓明[2] 张明智[1] 

机构地区：[1]郑州大学第一附属医院肿瘤科,河南郑州450052 [2]北京军区总医院消化内科,北京100700

出　　处：《基础医学与临床》2009年第6期589-592,共4页Basic and Clinical Medicine

基　　金：北京市自然科学基金(7062064)

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。Objective To analyze genotype-phenotype correlations of 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 e. 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 is wider than that of western countries located in codon 1250 - 1464.

关 键 词：家族性腺瘤性息肉病 APC基因 基因型 表现型 

分 类 号：R735.3[医药卫生—肿瘤]