摘要
为了解p16基因与中国人食管癌遗传易感性的关系,应用PCR-SSCP银染法和DNA序列测定法对40例食管癌及相应手术切端正常组织DNA标本p16基因进行研究,结果在40例食管癌标本DNA中共发现DNA变异14例,其中9例存在有p16基因的错义突变和剪接位点突变,5例分别在密码子41和140存在与白种人已发现的相同的正常多态现象,而相应的正常手术切端组织标本中未发现有错义突变和剪接位点突变。提示:(1)中国人食管癌中存在较高频率的p16基因突变,并以错义突变为主;(2)高发区和普通人群食管癌标本中p16基因突变频率未见差异;(3)正常对照手术切端组织未发现相应体细胞突变。表明p16基因突变在中国人食管癌发展过程中属较晚期的改变。
To understand the relationship between p16(MTS1) gene and the susceptibility of esophageal cancer, 40 primary squamous cell carcinomas of esophagous and their paired normal esophageal tissues at the resection ends were detected using PCR SSCP silver stain method and DNA sequencing. 14 mutations were found altogether in these 40 samples. 9 of 40 tumors had missense or splicing site mutations. 5 tumors had polymorphisms at condon 140 and condon 41 respectively. In the matched normal esophageal tissues, no mutation was found. These indicated:(1) high frequency mutations of p16 gene, especially missense mutations, exist in esophageal cancer tissues in Chinese; (2) no difference has been found in the mutation frequencies between high incidence area and normal populations; (3) no somatic mutations have been found in the resection end tissues. The results suggest that p16 gene mutations may play a role at the later stage of tumorigenesis in esophageal cancer in China.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1997年第3期138-141,共4页
Chinese Journal of Medical Genetics
基金
国家肿瘤攻关课题
攀登计划经费资助