食管癌P16基因突变  

Mutation Frequency of the P16 Gene in Primary Esophageal Squamous Cell Carcinomas

作　　者：王克文[1,2] 谢儒全[1,2] 邓长生[1,2] 

机构地区：[1]郴州市第一人民医院消化内科 [2]湖北医科大学二医院

出　　处：《肿瘤防治研究》1999年第3期174-176,共3页Cancer Research on Prevention and Treatment

摘　　要：目的：探讨Ｐ１６基因与原发性食管癌的关系，了解该基因突变在原发性食管癌发生、发展中的作用，方法：采用多聚合酶链反应结合单链构象多态性分析（ＰＣＲ：－ＳＳＣＰ），分析了２２例原发性食管鳞状上皮癌Ｐ１６基因第二外显子（ｅｘｏｎ２）的基因结构变化。结果：４０９％（９／２２）原发性食管鳞状上皮癌Ｐ１６基因ｅｘｏｎ２发生了突变，而对照组２２例正常组织中无一例表现有突变，其中低分化癌的突变率高于高、中分化癌（Ｐ＝００３８），临床Ⅳ期的突变率高于临床Ⅱ、Ⅲ期（Ｐ＝００４２）。结论：临床上检测原发性食管鳞状上皮癌有否Ｐ１６基因ｅｘｏｎ２突变，有助于识别恶性程度较高的食管癌。The P16 gene mapped on the short arm of chromosome 9(9p 21 ) was found to delete or mutate in various primary tumors and in a large number of transformed cell lines.To study the involvement of the p16 tumor suppressor gene in primary esophageal squamous cell carcinomas,we used the PCR-SSCP method to examine mutation frequency of the P16 gene exon2 in 22 primary esophageal squamous cell carcinomas and their corresponding normal tissues.Mutation of the P16 gene exon2 was observed in 9 out of 22 primary esophageal squamous carcinomas.There was no mutation in the normal tissues.The mutation rate of the P16 gene exon2 was higher in poorly differenciated squamous cell carcinomas than in well differenciated cancers ( P =0 038).The same result was observed between clinical stage Ⅳ and clinical stage Ⅱ、Ⅲ( P =0 042).It is suggested that mutation of the P16 gene exon2 is involved in most primary esophageal squamous cell carcinomas and that P16 gene mutation plays a critical role in the esophageal tumorigenesis.

关 键 词：食管癌 P16基因 基因突变 PCR-SSCP 

分 类 号：R735.102[医药卫生—肿瘤]