肿瘤转移抑制基因HTPAP的Haploview单体型构建分析  

Construction of the haplotype for tumor metastasis suppressor HTPAP by Haploview software

作　　者：武金才[1] 任宁[1] 李国才[1] 孙冰生[1] 刘道永[1] 史炯[1] 戴春[1] 董琼珠[1] 孙海晶[1] 叶青海[1] 钦伦秀[1] 

机构地区：[1]复旦大学肝癌研究所复旦大学附属中山医院,上海200032

出　　处：《中华实验外科杂志》2008年第2期175-176,共2页Chinese Journal of Experimental Surgery

基　　金：国家“863”计划资助项目（2006AA02Z473）;国家杰出青年基金（30325041）资助项目;国家自然科学基金资助项目（30600589）;上海市自然科学基金资助项目（06ZR14021）

摘　　要：目的通过单核苷酸多态性（SNP）检测对肿瘤转移抑制基因HTPAP进行单体型构建和分析。方法取100例肝细胞癌（HCC）新鲜标本，应用激光捕获组织显微切割获取纯肝癌细胞、提取DNA，对HTPAP基因上已登录的15个SNP位点进行检测，应用Haploview软件构建单体型。结果15个SNP位点中，有8个表现为单态、5个呈多态性、2个未能检测出。对100例肝细胞癌的该5个多态位点进行单体型构建后发现11种单体型，其中3种单体型（C-A-T-C-A、C-G-T-C-A和T-A-G-G-G）最常见，占87％，另外8种单体型占13％。4个SNP（rs7007097、rs3830326、rs1149、rs3739252）表现为强连锁不平衡关系，尽管rs11539529出现重组现象，但从整体看还是属于同一个单体型块。结论肿瘤转移抑制基因HTPAP在肝癌中常见C-A-T-C-A、C-G-T-C-A和T-A-G-G-G三种单体型，针对不同单体型研究分析可能为肝癌转移复发、预后预测提供新的途径和指标。Objective To investigate the haplotypes of candidate metastasis suppressor HTPAP through analyzing the single nucleotide polymorphisms （SNP） on it. Methods A total of 15 SNPs at HTPAP were detected in mlcrodissected HCC tissues from 100 paitents. The haplotypes were constructed by haploview software. Results Among 15 SNPs,8 were monomorphic,2 yielded no significant results, and the remaining 5 SNPs were enrolled in the haplotype analysis. A total of 11 haplotypes were found. Three of them （C-A-T-C-A, C-G-T-C-A and T-A-G-G-G） frequently occurred （87%）, and the other 8 haplotypes accounted for 13%. A strong linkage disequilibrium was found in 4 SNPs, and the other one at rs11539529 had a historical recombination. However, all of them were considered to belong to the same haplotype block. Conclusion Three common haplotypes （C-A-T-C-A, C-G-T-C-A and T-A-G-G-G） were found in these HCC patients, and the functional analysis of different haplotypes might provide a new way in the prediction of patients＇prognosis and tumor recurrence.

关 键 词：癌 肝细胞 单核苷酸多态性 转移 基因 

分 类 号：R73-3[医药卫生—肿瘤]