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目的探讨p16基因缺失和突变与人非小细胞肺癌发生、发展的关系。方法应用多重PCR、SSCP分析及DNA序列分析技术,对45例人非小细胞肺癌组织中p16基因外显子1和外显子2进行基因缺失和突变分析。结果45例肺癌样品中共检出19例p16基因缺失,总的缺失率为42.2%(19/45)。其中纯合型缺失8例(17.8%),半合型缺失11例(24.4%);外显子1缺失7例(15.6%),外显子2缺失12例(26.7%);p16基因外显子2的突变检出率为31.1%(14/45);DNA序列分析显示p16基因72位密码子无义突变7例,75位密码子错义突变7例。结论p16基因的缺失和突变可能与人非小细胞肺癌的发生、发展有关。
Objective To investigate the relationship between the deletion and mutation of p16 gene and the occurrence and development of human non-small cell lung cancer. Methods The gene deletion and mutation analysis of exon 1 and exon 2 of p16 gene in 45 human non-small cell lung cancer tissues were performed by multiplex PCR, SSCP analysis and DNA sequence analysis. Results A total of 19 p16 gene deletions were detected in 45 lung cancer samples. The total deletion rate was 42.2% (19/45). Among them, 8 were homozygous (17.8%), 11 were hemizygous (24.4%), 7 were exon 1 (15.6%), and 12 were exon 2 (26 The mutation detection rate of exon 2 of p16 gene was 31.1% (14/45). DNA sequence analysis showed that there were 7 non-sense mutations in codon 72 of p16 gene and 75 codon missense mutations. 7 cases. Conclusion The deletion and mutation of p16 gene may be related to the occurrence and development of human non-small cell lung cancer.