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微卫星不稳定性是指基因组中简单重复序列的增加或丢失。许多肿瘤中存在微卫星不稳定性现象。特别是微卫星不稳定性仅在肿瘤细胞中发现,未见于与肿瘤相邻的正常组织,提示与肿瘤的发生发展有关。人类遗传性非息肉样结肠直肠癌(HNPCC)的微卫星不稳定是DNA复制过程中负责碱基对错配修复的基因突变所致,它们的突变使DNA复制的精确性降低,是HNPCC发生的原因,这是继癌基因与抑癌基因之后发现的又一类肿瘤相关基因。
Microsatellite instability refers to the increase or loss of simple repeats in the genome. There are microsatellite instability phenomena in many tumors. In particular, microsatellite instability was found only in tumor cells and was not found in normal tissues adjacent to tumors, suggesting that it is related to the occurrence and development of tumors. The microsatellite instability of human hereditary non-polypoid colorectal cancer (HNPCC) is caused by mutations in the base pair mismatch repair process during DNA replication, and their mutations reduce the accuracy of DNA replication and are responsible for the occurrence of HNPCC. The reason is that this is another type of tumor-related gene discovered after the oncogene and the tumor suppressor gene.