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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 development of non-small cell lung cancer. Methods The homozygous deletion and sequence changes of exon 2 of p16 gene in 40 cases of non-small cell lung cancer were studied by P CR and double strand D N A direct sequencing. Results Homozygous deletion of exon 2 of p16 gene existed in 2 out of 40 cases of non-small cell lung cancer; 19 point mutations and 1 frameshift mutation of exon 2 of p16 gene were detected in 14 cases of tumor D N A samples. . Eight of these mutations are located at base 380 in codon 121. Conclusion The point mutation of p16 gene has a higher frequency in non-small cell lung cancer, and it is the main mutated form involved in the development of non-small cell lung cancer. The mutation hotspot of p16 gene in non-small cell lung cancer is the conversion and transversion of 380 bases in 121 codons.