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目的探讨中国北方人群遗传性非息肉病性结直肠癌(HNPCC)微卫星不稳定性(MSI)和错配修复(MMR)基因突变的特征。方法通过MSI检测和MMR基因种系突变检测对30个中国北方人HNPCC家系进行系统分析。结果①25个家系表现为高度微卫星不稳定(MSI-H),1个家系为低度微卫星不稳定(MSI-L),4个家系表现为微卫星稳定(MSS);②在25个MSI-H家系的先证者中,检测到14种致病性种系突变(hMLH1基因突变9种,hMSH2基因突变5种),突变类型包括框移突变、无义突变、剪接区突变、错义突变,并发现3种新突变位点。结论中国北方人群HNPCC的错配修复基因突变谱广泛而多样,应开展系统研究,以建立北方人群的HNPCC错配修复基因突变库并制定相应的突变检测策略。
Objective To investigate the characteristics of microsatellite instability (MSI) and mismatch repair (MMR) gene mutations in hereditary nonpolyposis colorectal cancer (HNPCC) in North China. Methods Thirty HNPCC pedigrees in northern China were systematically analyzed by MSI and MMR gene mutation detection. Results ① The 25 families showed high degree of microsatellite instability (MSI-H), one family had low degree of microsatellite instability (MSI-L) and four families showed microsatellite stability (MSS). ② In 25 MSI -H pedigree, 14 pathogenic germline mutations (9 hMLH1 mutations and 5 hMSH2 mutations) were detected. The types of mutations include frame shift mutations, nonsense mutations, splicing region mutations, missense mutations Mutation, and found three kinds of new mutation sites. Conclusions HNPCC gene mutation spectrum in North China is extensive and diverse. Therefore, a systematic study should be conducted to establish a mutation library of HNPCC mismatch repair gene in northern China and to develop a corresponding mutation detection strategy.