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DNA是生命活动最重要的遗传物质。DNA复制产生的误差(碱基错配)是一种重要的损伤。若DNA损伤得不到修复,将会导致基因的突变,其中一部分突变有利于物种的进化,而另一部分将导致细胞恶化和死亡。DNA错配修复系统(mismatch repair system,MMR)是人体细胞中存在的一种能识别并修复DNA碱基错配的安全保障系统。到目前为止,已从人体细胞中共分离克隆到9种MMR基因。hMLH1基因是一系列DNA错配修复基因中最重要的一种,也是MMR系统的重要成分,其甲基化可导致MMR缺陷。近年来的研究发现,hMLH1的失活与肿瘤发生发展有关,并可能因此导致肿瘤对某些抗肿瘤药物耐药。
DNA is the most important genetic material of life activity. Errors in DNA replication (base mismatches) are an important trait. If the DNA damage is not repaired, it will lead to gene mutation, some of which are conducive to the evolution of species, while the other will lead to cell deterioration and death. DNA mismatch repair system (MMR) is a kind of security system in human cells that can identify and repair DNA base mismatch. To date, nine MMR genes have been isolated and isolated from human cells. The hMLH1 gene is the most important of a series of DNA mismatch repair genes and an important component of the MMR system whose methylation can cause MMR defects. Recent studies have found that the inactivation of hMLH1 is associated with the development of tumors and may result in the tumor being resistant to certain antitumor drugs.