广西散发性结直肠癌DCC基因突变的研究

目的观察广西散发性结直肠癌DCC基因突变情况，并分析其与临床病理资料之间关系。方法应用常规酚、氯仿法提取73例散发性结直肠癌组织及相应正常黏膜组织的DNA。采用PCR—SSCP结合直接测序的方法检测DCC基因第4、28、29号外显子突变的情况。结果73例散发性结直肠癌患者中，18例201密码子表现为纯合突变型，7例201密码子表现为野生型，48例表现为杂合突变型。另有1例突变发生在第4内含子上。第28、29号外显子未发现突变。结论DCC基因突变与患者的性别、年龄、肿瘤发生的部位、浸润深度、组织病理、淋巴结转移、Dukes分期无关。

Point mutation of DCC gene in sporadic colorectal cancer in Guangxi

Objective To detect DCC gene mutation in sporadic colorectal cancer in Guangxi province and its correction with parameters of clinical pathology. Methods DNA from 73 patients with sporadic colorectal cancer was extracted by standard phenol/chloroform method. DCC gene was amplified by using polymerse chain reaction （PCR）, and analyzed by single strand conformation polymorphisms （SSCP） and then DNA direct sequencing. Mutations in exon 4,28,29 were analyzed. Results Three mutation types had been showed in 73 cases of sporadic colorectal cancer patients, 18 cases showed homozygous mutations, 7 cases showed wild-type, 48 cases showed heterozygous mutations. And another locus mutation was happened on intron 4. Conclusion The frequency of the mutation in DCC gene is not correlated with the parameters of clinical pathology.