人食管癌及其癌旁组织p53基因外显子4—8的突变分析

目的：了解抑癌基因p53在人食管癌及其癌旁组织中的突变，尤其是p53外显子4的变异。方法：采用PCR-SSCP和DNA测序等方法对24例人食管鳞状细胞癌术后标本进行了p53基因外显子4-8的突变分析。结果：在食管癌组织及癌旁组织幸免被检测的15列标本中，分别有40.0%(6/15)和46.7%(7/15)发生了突变，两者差异无显著性，食管癌组织标本中有50%（9/18）的突变发生在外显子4。另外，有4例在食管癌组织及癌旁组织中同时检测出p53基因突变，年龄，性别，术前治疗（放射治疗，化学药物治疗），肿瘤的部位等对癌组织的突变率并不产生影响。结论：在人食管癌及其癌旁组织中，p53基因的突变几率差异无显著性，年龄，性子4的突变可能产生了尤为重要的作用。

Analysis of p53 exon 4-8 gene mutations in human esophageal cancer tissue and nearby non-cancerous tissue

Objective:To characterize tumor suppressor gene p53 mutations, specially alteration in exon 4, in esophageal cancer and nearby non cancerous tissue.Methods:Analysis of p53 (exons 4 8) gene mutations was performed on 24 surgically resected human esophageal cancer specimens by polymerase chain reaction (PCR) and single strand conformation polymorphism (SSCP), and DNA Sequencing.Results:p53 mutations were detected in 5 out of 15 (40.0%) esophageal cancer specimens and 7 out of 15 (46.7%) nearby non cancerous tissues during both detected 15 specimens. The mutation of exon 4 (50%, 9/18) was detected in esophageal cancer specimens.Mutations of p53 gene were detected in both human esophageal cancer and nearby non cancerous tissues of 4 specimens.Conclusion:The results suggest that p53 gene mutation is the same in the two tissues. The mutation of p53 gene exon 4 may play an important role in development of esophageal cancer.Some clinical factors, including to age, sex, therapy of pre operation and location of tumor, do not influence p53 gene mutation rate.