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目的：研究卵巢癌患者ＤＮＡ错配修复基因ｈＭＳＨ２（ＨｕｍａｎｍｕｔＳｈｏｍｏｌｏｇ）基因突变，同时检测其基因组微卫星Ｄ２Ｓ１２３序列变化。方法：应用ＰＣＲ、ＰＣＲ－ＳＳＣＰ和ＤＮＡ序列分析方法检测了１５例卵巢癌患者正常细胞和肿瘤细胞中的ｈＭＳＨ２基因突变。结果：３例患者存在ｈＭＳＨ２基因生殖细胞或体细胞突变，序列分析表明有碱基置换的同义突变，有碱基丢失产生的无义突变。有３例患者基因组表现Ｄ２Ｓ１２３变化，其中１例检测到ｈＭＳＨ２突变。结论：ｈＭＳＨ２基因突变和卵巢癌发生有关。机理可能为其突变引起基因组不稳定，而引起一系列基因变化，导致细胞恶性转化
OBJECTIVE: To investigate the mutation of hMSH2 (HumanmutShomolog) gene in patients with ovarian cancer and to detect the sequence changes of its genome microsatellite D2S123. Methods: The hMSH2 gene mutations were detected in 15 normal and ovarian cancer patients by PCR, PCR-SSCP and DNA sequence analysis. RESULTS: There were mutations in the germ cell or somatic cell of the hMSH2 gene in 3 patients. Sequence analysis showed that there was a synonymous mutation in the base substitution and a nonsense mutation in the base loss. Three patients showed D2S123 changes in the genome, and one of them detected hMSH2 mutations. Conclusion: hMSH2 gene mutation is related to the occurrence of ovarian cancer. The mechanism may be that its mutation causes genomic instability and causes a series of gene changes, leading to malignant transformation of the cell