AT基因突变与食管癌及结肠癌的关系

The Relationship between AT Gene Mutation and Esophagus Cancer and Colon Cancer

目的 :探讨共济失调毛细血管扩张症 (AT)基因突变与食管癌及结肠癌发病的关系。方法 :运用PCR SSCP及DNA同位素测序等技术 ,对 17例食管癌和 15例结肠癌患者的AT基因第 41～ 5 1外显子进行突变检测。结果 :15例结肠癌标本的SSCP带型与正常对照组织无差异 ;17例食管癌标本中有 1例SSCP带型比正常对照组织多一条带 ,测序发现 ,该例标本在AT基因第 49外显子发生单碱基缺失。结论 :AT基因突变可能与某些类型的食管癌发病有关 。

Objective The purpose of the investigation was to explore the relationship between ataxia telangiectasia(AT) gene mutation and esophagus cancer as well as colon cancer.Method PCR?SSCP and isotope DNA sequencing were conducted on 32 patients with sporadic esophagus cancer (17) and colon cancer (15) to screen mutation(s) in exon 41～51 of the AT gene.Results DNA sequencing observed a single base deletion in exon 49 in 1 of the 17 patients with esophagus cancer. SSCP detection observed same band pattern among samples of colon cancer and controls, therefore DNA sequencing was not performed to colon cancer samples.Conclusion This study suggests that AT gene mutation may play a role in tumorigensis of esophagus cancer, while the possibility of relation between AT gene mutation and colon cancer remain uncertain.