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目的 研究中国人散发性结、直肠癌中APC基因的失活形式和规律。方法 应用聚合酶链反应 单链构象多态性分析 (PCR SSCP)、DNA直接测序及微卫星标记PCR LOH分析方法 ,检测分析 40例散发性结直癌APC基因的突变和杂合缺失。结果 40例结、直肠癌中有 3 1例检测到APC基因改变 :双次打击 2 4例 (其中LOH加突变 15例 ,双突变 9例 ) ,单个突变而无LOH 5例 ,仅有LOH而无突变 2例。APC基因突变率及杂合缺失率与肿瘤部位 ,肿瘤分化程度及Duke’s分期等无关。结论 APC基因改变与中国人散发性结直肠癌的发生有关。在大多数的中国人散发性结直肠癌的发生中 ,需要APC基因的双打击致功能完全失活 ,而且LOH加突变可能是其主要形式。在肿瘤获得恶性表型后 ,其进展及预后与APC基因杂合缺失与否无关。
Objective To study the form and pattern of inactivation of APC gene in Chinese sporadic colorectal cancer. Methods The mutation and heterozygosity deletion of APC gene in 40 patients with sporadic colorectal cancer were detected by polymerase chain reaction single strand conformation polymorphism analysis (PCR SSCP), DNA direct sequencing and microsatellite marker PCR LOH analysis. Results APC gene changes were detected in 40 cases of colorectal cancer and in 31 cases of rectal cancer. There were 24 cases of double-knocked-down (including 15 cases of LOH plus mutation and 9 cases of double-mutation), 5 cases of single mutation without LOH and only LOH No mutation in 2 cases. APC gene mutation rate and loss rate of heterozygosity and tumor location, tumor differentiation and Duke’s stage and so on. Conclusion The APC gene changes are related to the occurrence of sporadic colorectal cancer in Chinese. In most Chinese patients with sporadic colorectal cancer, double-striking APC gene function is required to be completely inactivated, and LOH plus mutations may be its main form. After malignant phenotype of tumor, its progress and prognosis have nothing to do with heterozygous deletion of APC gene.