原发性肝癌中CDKN_2/P16基因突变的研究

MUTATION OF CDKN 2/P16 GENE IN HUMAN HEPATOCELLULAR CARCINOMA (HCC).

目的 阐明 CDKN2 / P16基因突变与原发性肝癌发生的关系。方法 采用 PCR- SSCP及 PCR产物直接银染测序技术 ,对 30例原发性肝癌组织中 CDKN2 / P16基因第二外显子进行突变检测。结果 检出 2例 (2 / 30 ) CDKN2 基因突变 ,均是位于第12 4位密码子的错义突变。结论 CDKN2 基因的突变虽不频发 ,但在原发性肝癌的发生中起了一定作用。

Objective Clarify the relationship between mutations of CDKN 2/(P16) gene and sub-set of HCC.Methods Mutations in exon2 of CDKN 2/P16 gene were screened in 30 cases with HCC by a combination of PCR-SSCP and PCR-direct DNA Silver sequencing.Results CDKN 2 gene mutation as found in 2 cases(6.7%).There were missense mutations,occurring at condon 124,which led to an amino-acid substitution.Conclusion These results indicated that the mutation of the CDKN 2 gene are not frequent,but may play a role in a sub-set of HCC.