散发性结直肠癌1号染色体1q31．1—32．1区域等位基因杂合缺失精细定位研究  

Refined mapping of loss of heterzygosity on 1q31. 1-32. 1 in sporadic colorectal carcinoma

作　　者：唐华美[1] 周崇治[2] 裘国强[2] 樊军卫[2] 王晓亮[2] 彭志海[2] 

机构地区：[1]上海交通大学附属第一人民医院病理科,200080 [2]上海交通大学附属第一人民医院普通外科,200080

出　　处：《中华实验外科杂志》2009年第2期148-150,共3页Chinese Journal of Experimental Surgery

基　　金：基金项目：国家自然科学基金资助项目（30080016,30470977,307008-13）;上海市级医院临床科研资源共享平台建设项目（SHDC12007704）

摘　　要：目的对染色体1q31．1—32．1区域进行杂合缺失（LOH）精细定位分析，探讨更为精确的高频LOH区域并筛选可能与结直肠癌相关的抑癌基因。方法在1q31．1—32．1区域选择6对微卫星引物与83例结直肠癌的肿瘤和正常组织进行聚合酶链反应（PCR）。产物在ABI Prism377自动荧光测序仪进行电泳，以Gene Scan3．1和Genotyper2．1软件进行扫描以及LOH分析。LOH结果与临床病理参数之间的关系比较采用χ^2检验。结果1q31．1—32．1区域平均LOH率是22．98％。以D1S2622位点最高，为36．73％（18／49），最低是D1S412，为16．42％（11／67）。结果显示，更精确的缺失范围定位应该在DIS413和D1S2622之间（1q31．3-32．I），约2eM的遗传距离范围内。该区域各位点的LOH率与性别、年龄、肿瘤大小、生长方式以及肿瘤Dukes分期无明显相关。结论将1q31．1—32．1区域高频等位基因缺失精细定位于D1S413和D1S2622位点之间，遗传学距离约2cM的区域内，提示在该区域存在与结直肠癌发生发展相关的抑癌基因。Objective To explore precise loss of heterzygosity （LOH） regions on lq31.1-32.1 in Chinese patients with colorectal cancer. Methods Six fluorescence-labeled polymorphic markers on 1q31.1-32.1 were chosen. These markers in 83 colorectal cancers and normal tissues were analyzed by PCR. PCR products were electrophoresed for LOH scanning and analysis. Results The average LOH frequency of 1q31.1-32. 1 was 22.98% ,with the highest frequency of 36.73% （18/49） at D1S2622,and the lowest of 16.42% （11/67） at D1S412 respectively. A minimal region of frequent deletion was located within a 2 cM genomic segment at D1S413-D1S2622 （ lq31,3-32.1 ）. There was no significant association between LOH of each marker on 1 q31.1-32.1 and the clinicopathological data （patients＇ sex, age, tumor size, growth pattern or Dukes stage）. Conclusion Through our detailed deletion mapping, the critical and precise deleted regions were located within 2 cM chromosome segment encompassing 2 loci （ D1S413, D1S2622）.

关 键 词：结直肠癌 杂合缺失 抑癌基因 

分 类 号：R735.3[医药卫生—肿瘤]