中华皮肤科杂志 ›› 2002, Vol. 35 ›› Issue (2): 140-142.

• 论著 • 上一篇    下一篇

皮肤癌组织中p53基因的光突变

于波, 阎春林, 廖康煌, 朱运松   

  1. 复旦大学附属华山医院皮肤科 上海 200040
  • 收稿日期:2001-04-02 出版日期:2002-04-15 发布日期:2002-04-15

Ultraviolet-specific Mutations in p53 Gene in Epithelial Skin Cancers Among Chinese Patients

YU Bo, YAN Chunlin, LIAO Kanghuang, ZHU Yunsong   

  1. Department of Dermatology, Huashan Hospital, Fudan University, Shanghai 200040, China
  • Received:2001-04-02 Online:2002-04-15 Published:2002-04-15

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摘要： 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。

关键词: 癌,鳞状细胞, 癌,基底细胞, 基因,p53, 光

Abstract: Objective To investigate the p53 gene mutations in Chinese patients with epithelial skin cancers. Methods Biopsies of 22 squamous cell carcinoma(SCC)and 18 basal cell carcinoma(BCC)were analyzed by polymerase chain reaction denaturing gradient gel electrophoresis(PCR-DGGE) and DNA sequencing for alterations in the exons 5～8 of p53 tumor suppressor gene. Results p53 gene mutations were found in 32.5%(13/40)of tumor tissues and 92.3%(12/13) of the mutations occurred at sun exposed areas. 36.4%(8/22)of SCC tissues and 27.8%(5/18) of BCC tissues presented p53 gene mutations. Of the 13 mutations within the exons examined, 76.9%(10/13) were missense mutations and 23.1%(3/13) were nonsense mutations. Twelve of the 13 mutations were of single nucleotide substitutions. Six of the 13 mutations involved dipyrimidine sites, where a C was replaced by a T or CC was replaced by TT(five C→T transitions and one CC→TT transition). Conclusion Ultraviolet(UV) radiation might be related to the pathogenesis of skin cancer. Mutations of p53 gene caused by solar UV might play a significant role in UV tumorigenesis, although other carcinogens might also be involved.

Key words: Carcinoma,squamous cell, Carcinoma,basal cell, Genes,p53, Light