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.
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