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目的观察SMAD4基因在散发性结直肠癌中的突变,并探讨其对散发性结直肠癌发生发展的意义。方法对本院83例散发性结直肠癌患者,应用聚合酶链反应-单链构象多态性(PCR-SSCP)分析癌组织中SMAD4基因各外显子的突变情况,基因突变率与临床病理参数间采用x~2检验;应用多态性微卫星标记研究SMAD4基因所在18q21区的杂合性缺失。结果SMAD4基因在83例散发性结肠癌的患者中共有9例发生突变,平均突变率为10.8%。经x~2检验SMAD4基因突变率在肿瘤的Dukes分期及有无远处转移间差异有统计学意义(P<0.05),而与肿瘤的分化程度、发生部位及患者的性别差异无统计学意义(P>0.05)。18q21区的杂合性缺失率为62.71%,其中发生突变的9例均存在18q21区的杂合性缺失。结论SMAD4基因的突变可能介导了散发性结直肠癌后期的发生发展。
Objective To observe the mutation of SMAD4 gene in sporadic colorectal cancer and to explore its significance for the development of sporadic colorectal cancer. Methods 83 cases of patients with sporadic colorectal cancer in our hospital by polymerase chain reaction - single strand conformation polymorphism (PCR-SSCP) analysis of SMAD4 gene mutations in cancerous exons, gene mutation rate and clinical pathology The parameters were tested by x ~ 2. The heterozygous deletion of SMAD4 gene in 18q21 region was studied by using polymorphic microsatellite markers. Results There were 9 SMAD4 gene mutations in 83 patients with sporadic colon cancer with an average mutation rate of 10.8%. The mutation rate of SMAD4 gene was significantly different between Dukes staging and distant metastasis (P <0.05) by x ~ 2, but not with the degree of tumor differentiation, the occurrence site and the gender of patients (P> 0.05). The deletion rate of heterozygosity in 18q21 region was 62.71%, and the deletion of heterozygosity in 18q21 region was found in all 9 cases. Conclusion The mutation of SMAD4 gene may mediate the occurrence and development of sporadic colorectal cancer.