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AT基因突变与食管癌及结肠癌的关系
作者:管青山1 单祥年2 谢维2 周晓雷2 
单位:1.南京脑科医院,神经内科,江苏,南京,210029; 2.南京铁道医学院,生物学教研室,江苏,南京,210009
关键词:共济失调毛细血管扩张症基因 突变 食管癌 结肠癌 
分类号:R735.1, R735.3+5, R596
出版年·卷·期(页码):2000·19·第一期(5-7)
摘要:

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41~51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  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.

参考文献:

[1] Emark CT, Luo L, Lindblom A. ATM mutations in cancer families, 1996(18)
[2] Platzer M, Rotman G, Bauer D. Ataxia- telangiectasia locus:sequence analysis of 184-kb of human genomic DNA containing the entire ATM gene, 1997(6)
[3] Perkins T T, Bar-Shira A, Gilad S. A single ataxia-telangiectasia gene with a product similar to PI-3 kinase. 1995(5218). doi:10.1126/science.7792600
[4] Savitsky K, Sfez S, Tagle D A. The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species, 1995(11)
[5] Jeunemaitre S, Zhan Q, el-Deiry W S. A mammalian cell cycle checkpoint pathway utilizing p53 and GADD-45 is defective in ataxia-telangiectasia, 1992(4)
[6] Rak J. Ataxia-telangiectasia and cellular responses to DNA damage, 1995(24)
[7] Ambrosini G, Schaffner C, Litterst A. Biallelic mutations in the ATM gene in T-prolymphocytic leukemia, 1997(10)
[8] Vorechovsky I, Luo L, Dyer M J. Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia, 1997(1) 

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