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[散发性结直肠腺瘤和癌中APC基因MCR区域的突变]

[Mutations of APC gene MCR region in sporadic colorectal adenomas and carcinomas].

作者信息

Wang Y, Liu S, Hao D

机构信息

Department of Gastroenterology, Third Affiliated Hospital, China Medical University, Shenyang.

出版信息

Zhonghua Zhong Liu Za Zhi. 1998 Jul;20(4):284-6.

Abstract

OBJECTIVE

Fifteen specimens of colorectal adenomas and 45 specimens of carcinomas and each of their normal mucosa were analyzed for the APC gene exon 15 MCR(mutation cluster region).

METHODS

Gene mutation was examined by PCR-SSCP technique.

RESULTS

In three out of 15 cases of adenomas(20.0%) and 10 out of 45 cases of carcinomas(22.2%), mutations at MCR was detected. In colorectal carcinoma, APC gene mutation was not related to size, location, histologic features and lymph node metastases. In MCR region, 1260-1359 codons gave a lowest mutation frequency, while 1339-1436 codons showed the highest mutation frequency.

CONCLUSION

APC gene mutation detected in colorecral adenomas indicates that the APC gene mutation is an early event in colorectal carcinogenesis. It helps early diagnosis of colorectal carcinoma.

摘要

目的

对15份结肠直肠腺瘤标本、45份癌标本及其各自的正常黏膜进行APC基因第15外显子突变簇区域(MCR)分析。

方法

采用聚合酶链反应-单链构象多态性(PCR-SSCP)技术检测基因突变。

结果

15例腺瘤中有3例(20.0%)、45例癌中有10例(22.2%)检测到MCR区域突变。在结肠直肠癌中,APC基因突变与肿瘤大小、位置、组织学特征及淋巴结转移无关。在MCR区域,1260 - 1359密码子的突变频率最低,而1339 - 1436密码子的突变频率最高。

结论

在结肠直肠腺瘤中检测到的APC基因突变表明,APC基因突变是结肠直肠癌发生过程中的早期事件。它有助于结肠直肠癌的早期诊断。

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