论文部分内容阅读
目的了解皮肤癌皮损中p53基因的突变特点。方法以聚合酶链反应-变性梯度凝胶电泳(PCR-DGGE)和自动DNA分析检测p53基因5～8外显子的序列变化。结果32.5%(13/40例)的皮肤癌组织出现p53基因突变,其中92.3%(12/13例)发生于曝光部位,包括36.4%(8/22例)的鳞状细胞癌和27.8%(5/18例)的基底细胞癌。在13处突变中,12处为单核苷酸突变,占92.3%;10处为错义突变,占76.9%;3处为无义突变,占23.1%。其中6处为光致突变,占46.2%,包括发生于双胞嘧啶位置的C→T突变5处和CC→TT突变1处。结论光照参与皮肤癌患者的发病机制;光照导致的p53基因突变参与光致癌过程;尚有其他致癌因素参与皮肤癌的发生。
Objective To understand the mutation of p53 gene in skin lesions. Methods The sequence changes of exon 5 ~ 8 of p53 gene were detected by polymerase chain reaction-denaturing gradient gel electrophoresis (PCR-DGGE) and automated DNA analysis. Results p53 gene mutations were found in 32.5% (13/40) of the skin cancer tissues, of which 92.3% (12/13) occurred in the exposure site, including 36.4% (8/22) squamous cell carcinomas and 27.8% 5/18 cases) of basal cell carcinoma. Of the 13 mutations, 12 were single nucleotide mutations, accounting for 92.3%; 10 were missense mutations, accounting for 76.9%; 3 were nonsense mutations, accounting for 23.1%. Among them, six were photo-induced mutations, accounting for 46.2%, including 5 mutations in C → T and 1 mutations in CC → TT. Conclusion Light exposure is involved in the pathogenesis of skin cancer patients. Light-induced mutation of p53 gene is involved in the process of photodamage. There are other carcinogenic factors involved in the development of skin cancer.