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[人食管癌和贲门癌中p53基因的突变]

[Mutation of p53 gene in human cancers of the esophagus and gastric cardia].

作者信息

Li H C, Lu S X

机构信息

Cancer Institute, Chinese Academy of Medical Sciences Peking Union of Medical College, Beijing.

出版信息

Zhonghua Zhong Liu Za Zhi. 1994 May;16(3):172-6.

PMID:7956692
Abstract

p53 gene in human esophageal cancer (EC) and cancer of gastric cardia was analyzed. Southern blotting hybridization revealed that five of 35 of EC sample were found to contain abnormal structure of p53 gene, including 2 deletions and 3 rearrangements; two of 27 adjacent non-tumor tissues also contain abnormal structure of p53 gene (7.4%), among them one case was fragment deletion and another case was rearrangement. PCR-direct sequencing technique was used to detect p53 point mutation within exon and intron 5 through 9. Fifteen of 30(50%) of esophageal squamous cell carcinomas contained mutation of p53 gene. Five of 11(45%) adjacent non-tumor tissues also contained mutation of p53 gene. An esophageal adenocarcinoma showed p53 mutation. Three of 4 carcinoma of gastric cardia showed p53 mutation. Mutation spectrum in EC: 8 of 22 cases (36.4%) of p53 mutation were G:C to A: T transition, 6 of 22 cases (27.3%) of p53 mutation were frameshift mutation, including 13.6% (3/22) insertion and 9.1% (2/22) deletion mutation. Some new sites of p53 mutation in human EC were identified. The results suggest that the p53 gene plays an important role in carcinogenesis of human esophagus and gastric cardia.

摘要

对人食管癌(EC)和贲门癌中的p53基因进行了分析。Southern印迹杂交显示,35例EC样本中有5例存在p53基因结构异常,包括2例缺失和3例重排;27例相邻非肿瘤组织中有2例也存在p53基因结构异常(7.4%),其中1例为片段缺失,另1例为重排。采用PCR直接测序技术检测外显子和5至9号内含子内的p53点突变。30例食管鳞状细胞癌中有15例(50%)存在p53基因突变。11例相邻非肿瘤组织中有5例(45%)也存在p53基因突变。1例食管腺癌显示p53突变。4例贲门癌中有3例显示p53突变。EC中的突变谱:22例p53突变中有8例(36.4%)为G:C到A:T转换,22例p53突变中有6例(27.3%)为移码突变,包括13.6%(3/22)插入突变和9.1%(2/22)缺失突变。鉴定出人类EC中一些新的p

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