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目的 探讨散发性结直肠癌组织中 β转化生长因子Ⅱ型受体 (TransformingGrowthFactor βTypeⅡReceptor,TGF βRⅡ )基因的突变情况。 方法 组织DNA提取后进行PCR SSCP(SingleStrandConformationPolymorphism) 银染分析 ,经测序确定点突变类型。 结果 在TGF βRⅡ的DNA 70 9 71 8位点突变率为 1 0 % (5 /5 0 ) ,表现为 1A的缺失突变。突变率在近端 (2 6 .32 % )明显高于远端 (0 % )。结论 在散发性结直肠癌中TGF βRⅡ基因具有较低的突变率 ;近端结肠癌尤其是回盲部癌有较高的突变率。
Objective To investigate the mutation of TGF βR Ⅱ gene in sporadic colorectal cancer. Methods The tissue DNA was extracted and analyzed by PCR SSCP (SingleStrandConformation Polymorphism) silver staining. The type of point mutation was confirmed by sequencing. Results The mutation rate of TGFβRⅡ in DNA 70 9 71 8 was 10% (5/50), showing the deletion mutation of 1A. The mutation rate was significantly higher in the proximal (26.32%) than distal (0%). Conclusions TGFβRⅡ gene has a lower mutation rate in sporadic colorectal cancer, and a higher mutation rate in proximal colon cancer, especially in the ileocecal carcinoma.