宁夏地区散发性大肠癌APC基因突变的研究

目的检测宁夏地区散发性大肠癌APC基因的突变情况,探讨本地区APC基因突变与临床病理参数之间的关系。方法运用聚合酶链反应(PCR)和DNA直接测序方法,对58例散发性大肠癌患者癌组织的APC基因第15外显子15-A、15-B、15-C三个区段进行突变检测。结果 58例大肠癌组织中检出25例体细胞突变,突变率为43.1%(25/58),其中P.Val1125Ala、c.3811T>G为新发现的突变位点。该地区散发性大肠癌的APC基因突变在大肠癌各临床病理参数之间的差异均无统计学意义(P﹥0.05)。结论 APC基因突变是宁夏地区散发性大肠癌常见的基因改变事件,以截短型突变为主。腺瘤癌变后APC基因突变与大肠癌的发展和预后无关。

Analysis of APC Gene Mutations in Sporadic Patients with Colorectal Cancer in Ningxia

Objective To investigate mutations of APC gene in sporadic colorectal carcinomas of Ningxia and to explore its correlation with parameters of clinical pathology.Methods Mutation of the adenomatous polyposis coli(APC) gene was analyzed using polymerase chain reaction and direct sequencing methods.Results twenty-five of the 58(43.1%) colo-rectal carcinom showed mutations including two novel sequence variants: P.Val1125Ala and c.3811T > G.No significant correlation was found between the frequency of APC mutation in Ningxia and clinical pathological parameters of colorectal carcinomas(P > 0.05).Couclusion The mutations of APC gene are common alterations in sporadic colorectal carcinoma in Ningxia and truncating mutation is the main pattern.The results also showed that after adenoma to carcinoma,mutation of APC gene didn’t influence the progression and prognosis of carcinomas.