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目的 研究我国肺癌组织中 CDKN2 / p16基因点突变的发生情况。方法 采用聚合酶链反应 -单链构象多态性和序列分析的方法 ,对 89例肺癌组织中 CDKN2 / p16基因第 2外显子的点突变进行了研究。结果 在未发生第 2外显子缺失的 6 9例肺癌组织中 ,发现 CDKN2 / p16基因第 2外显子变异或可疑变异者 16例 ;对该 16例进行序列分析 ,共发现有 9例存在不同类型的基因点突变。结论 点突变是 CD-KN2 / p16基因失活的一种形式 ,但不是主要形式。由点突变引起的 CDKN2 / p16基因失活在肺癌的发生发展中起一定的作用。
Objective To study the occurrence of point mutation in CDKN2 / p16 gene in lung cancer of China. Methods The mutation of exon 2 of CDKN2 / p16 gene in 89 cases of lung cancer was studied by polymerase chain reaction-single strand conformation polymorphism and sequence analysis. Results Sixteen cases of mutation or suspicious mutation of exon 2 of CDKN2 / p16 gene were found in 69 cases of lung cancer without deletion of exon 2. Nine of the 16 cases were found by sequence analysis Different types of gene point mutations. Conclusions Point mutations are a form of inactivation of the CD-KN2 / p16 gene, but not the predominant form. Inactivation of CDKN2 / p16 gene by point mutation plays a role in the development of lung cancer.