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| 北方人群HNPCC微卫星不稳定性和错配修复基因突变规律研究 | |
| 引用本文： | 盛剑秋,陈香宇,孙自勤,黄继胜,牧宏,韩敏,付蕾,李爱琴,武子涛,王志红,韩英,李世荣. 北方人群HNPCC微卫星不稳定性和错配修复基因突变规律研究[J]. 胃肠病学和肝病学杂志, 2008, 17(4): 287-290 |
| 作者姓名： | 盛剑秋 陈香宇 孙自勤 黄继胜 牧宏 韩敏 付蕾 李爱琴 武子涛 王志红 韩英 李世荣 |
| 作者单位： | 1. 北京军区总医院消化科,北京,100700 2. 郑州大学第一附属医院 3. 济南军区总医院 4. 商丘市第一人民医院 5. 中国人民解放军253医院 |
| 摘 要： | 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。 |
| 关 键 词： | 遗传性非息肉病性结直肠癌 微卫星不稳定性 突变 HMSH2 HMLH1 错配修复 |
| 文章编号： | 1006-5709(2008)04-0287-04 |
| 修稿时间： | 2008-01-07 |
Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary nonpolyposis colorectal cancer |
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| SHENG Jianqiu,CHEN Xiangyu,SUN Ziqin,HUANG Jisheng,MU Hong,HAN Min,FU Lei,LI Aiqin,WU Zitao,WANG Zhihong,HAN Ying,LI Shirong. Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary nonpolyposis colorectal cancer[J]. Chinese Journal of Gastroenterology and Hepatology, 2008, 17(4): 287-290 | |
| Authors: | SHENG Jianqiu CHEN Xiangyu SUN Ziqin HUANG Jisheng MU Hong HAN Min FU Lei LI Aiqin WU Zitao WANG Zhihong HAN Ying LI Shirong |
| Affiliation: | SHENG Jianqiu, CHEN Xiangyu , SUN Ziqin , HUANG Jisheng , MU Hong , HAN Min , FU Lei , LI Aiqin , WU Zitao , WANG Zhihong , HAN Ying, LI Shirong(1. Department of Gastroenterology,General Hospital of Beijing Military Region, Beijing 100700 ; 2. The First Hospital of Zhengzhou University; 3. The General Hospital of Jinan Military Region; 4. The First People＇ s Hospital of Shangqiu; 5. The 253 Hospital of PLA, China) |
| Abstract: | Objective To investigate microsatellite instability （MSI） and mutations of mismatch repair genes in HNPCC of the northern Chinese population. Methods Here we systematically analyzed 30 HNPCC families from northern China for MSI and MMR gene mutation. Results Twenty-five （83.3%） showed high level MSI amongst which 14 pathogenic germline mutations were detected,including 3 novel mutations. The type of mutation include frame shift,non： sense,splice site mutation and missense mutation. Conclusion M MR gene mutations show a wide spectrum in northern Chinese HNPCC families, which calls for a systematic study to facilitate design of MMR gene mutation detection strategy tailored for northern Chinese population. |
| Keywords: | Hereditary nonpolyposis colorectal cancer Microsatellite instability Mutation hMSH2 hMLH1 Mismatch repair |
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