Shinmura K, Yamaguchi S, Saitoh T, Kohno T, Yokota J
Biology Division, National Cancer Center Research Institute, 1-1, Tsukiji 5-chome, Chuo-ku, 104-0045, Tokyo, Japan.
Cancer Lett. 2001 May 10;166(1):65-9. doi: 10.1016/s0304-3835(01)00435-9.
To elucidate the involvement of 8-hydroxyguanine (oh(8)G) repair genes in human lung carcinogenesis, 47 lung cancer cell lines and 55 primary lung cancers were examined for somatic mutations and genetic polymorphisms in all coding exons of the MYH and APEX genes, and exon 8 of the OGG1 gene by polymerase chain reaction-single strand conformation polymorphism analysis. In the MYH gene, one missense mutation was detected in a cell line, NCI-H157, whereas no mutations were detected in primary cancers. There were no mutations in the APEX and OGG1 genes in the cell lines or primary cancers. Ten single nucleotide polymorphisms (SNPs) were identified, and seven of them were accompanied by amino acid substitutions. Differences in the oh(8)G repair activities of MYH, APEX and OGG1 proteins due to somatic mutations and SNPs can be involved in human carcinogenesis.
为阐明8-羟基鸟嘌呤（oh(8)G）修复基因在人类肺癌发生中的作用，通过聚合酶链反应-单链构象多态性分析，检测了47个肺癌细胞系和55例原发性肺癌中MYH和APEX基因所有编码外显子以及OGG1基因第8外显子的体细胞突变和基因多态性。在MYH基因中，在一个细胞系NCI-H157中检测到一个错义突变，而在原发性癌症中未检测到突变。在细胞系或原发性癌症的APEX和OGG1基因中均未发现突变。鉴定出10个单核苷酸多态性（SNP），其中7个伴有氨基酸替换。由于体细胞突变和SNP导致的MYH、APEX和OGG1蛋白的oh(8)G修复活性差异可能参与人类致癌过程。
