目的:研究p16基因的突变在人胰腺癌发生中的作用.方法:应用PCR、PCR.SSCP、DNA测序,研究p16基因的突变情况.结果:在35例人胰腺癌标本中,发现有12例在p16基因第2外显子部分存在至少522 bp的纯合缺失.另有7例存在2个点突变,突变位点均相同,一为第126密码子碱基GTC突变为AAT,氨基酸由缬氨酸(Val)变成了天冬酰胺(Asn),全为错义突变;另一为第127密码子GCA→GCG的同义突变.结论:p16基因的突变在人胰腺癌有较高的发生率.

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