%0 Journal Article
%T 云南省7个Lynch综合征家系中致癌基因突变研究
%A 李文亮
%A 洪敏
%A 潘国庆
%A 珠珠
%A 董坚
%A 陈昌望
%A 黄鉴
%J 肿瘤防治研究
%D 2015
%R 10.3971/j.issn.1000-8578.2015.04.016
%X 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dMMR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
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%U http://www.zlfzyj.com/CN/abstract/abstract8472.shtml