上消化道恶性肿瘤中p16基因突变的研究

目的　研究p16基因突变与食管癌和胃癌发生的关系。方法　采用PCR、多重PCR、PCR SSCP和DNA测序等技术分析了 2 5例食管癌和 40例胃癌组织标本。结果　 1.食管癌中p16基因突变频率为 16 % ,并且突变频率与肿瘤的大小、位置、分化程度和有无淋巴结转移无关 (P >0 .0 5 )。 2 .胃癌中p16基因突变频率为 7.5 % ,并且突变与肿瘤的大小、位置、分化程度和有无淋巴结转移无关 (P >0 .0 5 )。结论　 1.P16基因点突变可能是食管癌和胃癌发生发展过程中的影响因素之一 ,错义突变是其失活的主要原因。 2 .P16基因点突变的检测对食管癌和胃癌早期诊断有一定帮助。

Mutation of p16/mts1 gene in human primary cancers in the upper digestive tract

Objective To determine the frequency and type of p16 gene mutation with the progression of human esophageal and gastric carcinogenesis. Methods PCR(Polymerase Chain Reaction),SSCP( Single strand conformation polymorphism ) and DNA sequencing were performed on 25 esophageal cancers and 40 gastric cancers.Results 1. Mutation frequency of p16 gene was 16% in the esophageal cancer, and p16 gene mutation was not related to site,location,grade of tumor differentiation and lymph node metastases. 2. Mutation frequency of p16 gene was 7.5% in the gastric cancer, and p16 gene mutation was not related to site,location,grade of tumor differentiation and lymph node metastases.Conclusion p16 gene mutation detected in esophageal and gastric carcinomas indicated that the p16 gene mutation is one of events contributing to carcinogenesis. Missense mutation is possibly the major cause of p16 inactivation.It helps early diagnosis of human esophageal and gastric cancer.