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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 ,但尚不能判断与结肠癌的相关性
Objective: To investigate the relationship between ataxia telangiectasia (AT) gene mutation and esophageal cancer and colon cancer. Methods: Mutations of exon 41 to exon 51 of AT gene in 17 cases of esophageal cancer and 15 cases of colon cancer were detected by PCR SSCP and DNA isotope sequencing. Results: There was no difference between the SSCP patterns of 15 cases of colon cancer and those of normal controls. One of the 17 cases of esophageal cancer samples showed one more SSCP band than that of the normal controls. Sequencing showed that this sample was found in the 49th AT gene Exon occurs single base deletion. CONCLUSIONS: AT gene mutations may be associated with the pathogenesis of some types of esophageal cancer, but the association with colon cancer is not yet known