云南省7个Lynch综合征家系中致癌基因突变研究  

Virulence Gene Mutation in Seven Kindreds of Lynch Syndrome in Yunnan Province

作　　者：珠珠[1] 黄鉴[1] 潘国庆[2] 陈昌望 洪敏[3] 李文亮[1] 董坚[3] 

机构地区：[1]昆明医科大学第一附属医院肿瘤科,昆明650032 [2]昆明医科大学第一附属医院病理科,昆明650032 [3]昆明医科大学第一附属医院肿瘤内科,昆明650032

出　　处：《肿瘤防治研究》2015年第4期389-393,共5页Cancer Research on Prevention and Treatment

基　　金：国家863计划项目(2012AA02A204)

摘　　要：目的探讨云南省7个Lynch综合征(Lynch syndrome,LS)家系中常见致病基因突变情况。方法选取昆明医科大学第一附属医院肿瘤科2008年3月—2013年12月收治的7个经过免疫组织化学检测和微卫星不稳定检测确定为MSI-H和d MMR的家系先证者,并且这7个家系都符合AmsterdamⅡ诊断标准。采用目标区域捕获结合高深度测序技术,对家系首发患者的遗传性结直肠癌相关5个基因外显子及其邻近±2 bp内含子区变异进行分析。结果 7个家系(2个白族家系、2个彝族家系、3个汉族家系)中,2个白族家系和2个彝族家系均未发现已知突变位点。结论 Lynch综合征家系致病突变可能存在民族差异。Objective To discuss the common virulence gene mutation in seven Lynch syndrome families from Yunnan Province. Methods We selected seven families treated at Department of Oncology, The First Affiliated Hospital of Kunming Medical University from March 2008 to December 2013. These families were confirmed as MSI-H and d MMR propositus through immunohistochemical detection and microsatellite instability detection and also they met the AmsterdamⅡ diagnostic criteria. By adopting the target area acquisition combined with the deep sequencing technology, we analyzed five gene exon and their neighbouring ±2bp intron area mutation related to hereditary colorectal cancer in the first-episode patients in these kindreds. Results Among seven families, including two Bai families, two Yi families and three Han families, the known mutation were not found in the four minorities' pedigrees. Conclusion Pedigree Lynch syndrome mutation maybe varies by nationality.

关 键 词：LYNCH综合征 遗传性非息肉性结直肠癌 DNA错配修复基因 APC基因 

分 类 号：R735.34[医药卫生—肿瘤]