中国人遗传性非息肉病性结直肠癌错配修复基因大片段缺失研究  

Large genomic deletions of mismatch repair genes in Chinese patients with hereditary nonpolyposis colorectal cancer

作　　者：黄彦钦[1] 袁瑛[1] 王亚平[2] 朱明[2] 张苏展[1] 郑树[1] 

机构地区：[1]浙江大学医学院附属第二医院肿瘤研究所,杭州310009 [2]江苏省肿瘤防治研究所分子生物室

出　　处：《中华医学遗传学杂志》2005年第1期88-90,共3页Chinese Journal of Medical Genetics

基　　金：国家863课题"消化道肿瘤遗传资源的收集与保存"(2001AA227111)~~

摘　　要：目的了解中国人遗传性非息肉病性结直肠癌(hereditarynonpolyposiscolorectalcancer,HNPCC)家系中MSH2和MLH1基因大片段缺失情况及特点,以进一步完善中国人HNPCC家系遗传检测内容。方法取14个符合中国人HNPCC诊断标准的HNPCC家系肿瘤先证者外周血DNA,用荧光标记多重PCR技术结合GeneScan分析系统检测MSH2和MLH1基因大片段缺失。结果14例患者中有1例检测到MSH2基因第1～7外显子缺失,该家系另1例大肠癌患者和3个家系成员有同样的基因片段缺失。结论中国人HNPCC家系错配修复基因大片段缺失可能以MSH2比较常见。建议在中国人HNPCC家系遗传检测中常规包含错配修复基因大片段缺失检测。Objective To gain an insight into large genomic deletions in mismatch repair genes MSH2 and MLH1 in Chinese hereditary nonpolyposis colorectal cancer (HNPCC) patients in order to improve genetic detections of HNPCC kindreds. Methods Fourteen peripheral blood DNA samples were obtained from 14 unrelated HNPCC patients, and fluorescent labeled quantitative multiplex PCR was used to detect large genomic deletions inMSH2 and MLH1 genes. Results One of the fourteen probands, a man, was found to have MSH2 exon 1-7 deletions. His cancer-distressed son was also found to have the mutations. Additionally, three normal members of the family had the same mutations. Conclusion Large genomic deletions which mainly present to MSH2 account for 20% of general pathological sequence changes of MSH2 and MLH1 genes in Chinese HNPCC patients, and large genomic detections of mismatch repair genes should be included in the regular genetic detections of Chinese HNPCC kindreds.

关 键 词：HNPCC 家系 错配修复基因 MSH2 中国人 遗传性非息肉病性结直肠癌 MLH1 片段 多重PCR技术 外显子 

分 类 号：R735.3[医药卫生—肿瘤]