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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 gene and genetic susceptibility of esophageal cancer in China, PCR-SSCP silver staining and DNA sequencing were used to study the p16 gene of DNA samples from 40 esophageal cancers and corresponding surgically resected cut ends. The results were studied in 40 cases of esophagus. DNA mutations were found in cancer specimens in 14 cases, of which 9 cases had missense mutations in the p16 gene and splice site mutations, and 5 cases had the same normal polymorphism as found in Caucasians at codons 41 and 140, respectively. However, missense mutations and splice site mutations were not found in the corresponding normal surgical excision tissue specimens. (1) There is a higher frequency of p16 gene mutations in Chinese esophageal cancers and missense mutations. (2) There is no difference in the frequency of p16 gene mutations in esophageal cancer specimens from high-incidence and general population; (3) No corresponding somatic mutations were found in the normal control surgical incision tissue. It indicates that the p16 gene mutation is a late stage change in the development of esophageal cancer in Chinese.