喉癌中p16基因突变和甲基化的研究

The study of p16 gene mutation and methylation in laryngeal squamous cell carcinoma

目的 探讨p16基因在喉癌发生发展中的作用和在喉癌中的失活机制。方法 应用聚合酶链反应 单链构象多态性分析 (polymerasechainreaction singlestrandconformationpolymorphismanalysis ,PCR SSCP)银染方法和PCR甲基化敏感内切酶方法检测 32例喉癌和相应癌旁组织的p16基因第 1,第 2外显子突变和甲基化热点区域部分内切酶位点的甲基化情况。结果 32例喉癌中p16第 1第 2外显子无一例发生突变 ;在第 1外显子CfoⅠ位点有 6例发生甲基化 ,SacⅡ位点有 5例发生甲基化 ,HpaⅡ位点有 4例发生甲基化 ,甲基化发生频率为 (6 /32 ) 18 8%。在第 2外显子HpaⅡ位点有 5例发生甲基化 ,CfoⅠ位点有 6例发生甲基化 ,甲基化发生频率为 (6 /32 ) 18 6 %。结论 喉癌中p16基因的甲基化是该基因失活的重要机制之一 ,p16基因的失活与喉癌的发展和演进密切相关。

Objective To investigate the development and mechanism of the p16 gene inactivation in laryngeal squamous cell carcinoma (LSCC) Methods With PCR-based methylation assay and PCR-SSCP, first and second exon mutation in p16 gene and methylation of endogenase in promoter in 32 cases of LSCC and paracancer tissue were studied Results No mutation were found in first and second exon in the samples; methylation of CfoⅠwere detected in 6 cases in first exon , methylation of SacⅡ was found in 4 cases, and methylation of HpaⅡ in 4 cases In second exon , methylation of HpaⅡ was detected in 5 cases and methylation of CfoⅠin 6 cases Conclusion [WT9.,8.7BZ]Methylation of promoter in p16 gene is one of the important mechanisms of the inactivation of the gene The inactivation of p16 gene has a close relation with the development and progress of LSCC