非小细胞肺癌中p16基因的突变研究

Mutation analysis of p16 gene in non small cell lung carcinomas

目的 探讨ｐ１６ 基因在非小细胞肺癌发生发展过程中所起作用。方法 应用 Ｐ Ｃ Ｒ 与双链 Ｄ Ｎ Ａ 直接测序技术对４０ 例非小细胞肺癌中ｐ１６ 基因外显子２ 的纯合缺失与序列改变进行了研究。结果４０ 例非小细胞肺癌中有２ 例存在ｐ１６ 基因外显子２ 的纯合缺失；１４ 例肿瘤 Ｄ Ｎ Ａ 样品中检出ｐ１６ 基因外显子２ 的１９ 个点突变和１ 个移码突变。其中８ 个突变位于１２１ 位密码子中３８０ 位碱基处。结论 ｐ１６ 基因点突变在非小细胞肺癌中发生频率较高，是参与非小细胞肺癌发生发展的主要突变形式。非小细胞肺癌中ｐ１６ 基因的突变热点为１２１ 位密码子中３８０ 位碱基的转换与颠换。

Objective To investigate the role of p16 gene in the tumorigenesis of non small cell lung carcinomas (NSCLC).Methods Homozygous deletion and mutation of exon 2 of p16 genes in 40 NSCLC tissues were analyzed using PCR and dsDNA direct sequencing technique.Results In 2 NSCLC tissues, homozygous deletions of p16 gene were detected; in 14 NSCLC tissues, 19 point mutations and a frameshift were detected.Conclusion Point mutations of p16 gene were frequent and might play a role in the initiation and progression of NSCLC. Nt380 in this gene was a hot spot of mutation.