非小细胞肺癌p16基因甲基化及缺失的研究

目的 研究p16基因在非小细胞肺癌组织中的甲基化和缺失情况，探讨其在肺癌诊断中的价值。方法 应用甲基化相关的PCR及双重PCR，检测50例肺癌组织和54例正常肺组织中p16基因第1外显子5′端启动子区域CpG岛甲基化及第2外显子缺失情况。结果 p16基因在非小细胞肺癌组织中甲基化率为32.0%(16/50)。缺失率为28.0%(14/50);54例正常肺组织甲基化率为3.7%(2/54)，缺失率为0，二组比较，甲基化率（Fisher's exact=0.000)及缺失率（Fisher's exact=0.000)均有显著性差异。结论 甲基化和缺失是非小细胞肺癌p16基因失活的主要形式，检测p16基因甲基化和缺失状态可能有助于肺癌的诊断。

Detection of methylation and deletion of p16 gene in non-small cell lung cancer

Objective To investigate the methylation and deletion of p16 gene and its diagnostic value in non small cell lung cancer. Methods A total of 50 lung cancer tissues and 54 normal lung tissues were examined for p16 gene methylation in exon 1 and deletion in exon 2 by PCR based methylation analysis and duplex PCR respectively. Results Out of 50 lung cancer tissues, 16 were positive for the p16 gene exon 1 methylation (32.0%), and 14 for the p16 gene exon 2 deletion (28.0%). However, in 54 cases of normal lung tissues, only 2 showed the p16 gene exon 1 methylation(3.7%), and none showed the p16 gene exon 2 deletion. There were significant differences in methylation rate (Fisher's exact= 0.000 ) and deletion rate (Fisher's exact= 0.000) between the two groups. Conclusion The methylation and deletion may be important mechanisms for p16 gene inactivation in non small cell lung cancer. The detection of p16 gene status may contribute to the diagnosis of lung cancer.