散发性结直肠癌患者5号染色体杂合缺失分析  

Allelic analysis on chromosome 5 in sporadic colorectal cancer patients

作　　者：张放[1] 周崇治[1] 凌云[1] 裘国强[1] 柏邵春[2] 刘万清[2] 贺林[2] 彭志海[1] 

机构地区：[1]上海市第一人民医院普外科,200080 [2]上海交通大学生命科学院分子遗传学实验室

出　　处：《中华肿瘤杂志》2002年第5期458-460,共3页Chinese Journal of Oncology

基　　金：国家自然科学基金资助项目 (3 0 0 80 0 16)

摘　　要：目的　探讨散发性结直肠癌患者 5号染色体上与抑癌基因相关的杂合缺失 (LOH)情况 ,并探索新的抑癌基因位点。方法　对 83例散发性结直肠癌患者基因组DNA ,以 15个不同荧光标记的高度多态性微卫星引物 (平均遗传距离 12 .6 7cm)扩增相应的微卫星位点 ,用ABIPRISM 377测序仪进行基因扫描 ,统计各位点杂合缺失率。结果　在 15个微卫星位点中 ,平均杂合缺失率为2 5 .80 %。5p中最高为D5S4 16 ,占 4 8.15 % ;5q中最高为D5S4 71,占 38.71%。D5S4 71周围的 3个位点(D5S4 2 8、D5S2 0 2 7和D5S2 115 )也存在高频的杂合缺失 (>30 .0 0 % )。结论　 5号染色体上存在着高频的杂合缺失 ,其中 5q13.3～ 31.1区域中 ,有与结直肠癌发生密切相关的APC、MCC、CTNNA1及IL家族等基因 ;而在 5p15 .1上的D5S4 16的杂合缺失率高达 4 8.15 % ,此区域至今尚未发现与结直肠癌相关的基因位点 。Objective To evaluate and map the putative tumor suppressor loci on chromosome 5 involved in tumor progress or metastasis. Methods Chromosome 5 of 83 patients with sporadic colorectal cancer was systemically screened. Fifteen microsatellite marker primers labeled with 3 different fluorescents were used to amplify the corresponding loci of the genome DNA. The PCR products were electrophoresed on a 377 PRISM sequencer and the fluorescent signals were analyzed with Genotyper and Genescan software. Results The highest loss of heterozygosity (LOH) ratio was found at D5S416(48.15%) on 5p and at D5S471(38.71%) on 5q. The region (5q13.3 31), where D5S471 and 3 neighboring loci (D5S428, D5S2027 and D5S2115) reside, presented high frequent LOH. Conclusion The deletion of APC, MCC, CTNNA1 and IL cluster in the 5q 13.3 31.1 area play important role in the tumorgenesis of colorectal cancer, and the expected existence of another novel tumor suppressor gene on 5p is possible.

关 键 词：散发性结直肠癌 5号染色体 染色体缺失 肿瘤抑制基因 微卫星位点 

分 类 号：R735.3[医药卫生—肿瘤]