散发性大肠癌APEX基因两个单核苷酸多态性的检测及分析  

Detection and analysis for two single nucleotide polymorphism of APEX gene in sporadic colorectal cancer

作　　者：侯君[1] 汤显斌[1] 谭云山[1] 刘佳[1] 

机构地区：[1]复旦大学附属中山医院病理科,上海200032

出　　处：《临床检验杂志》2004年第2期120-122,共3页Chinese Journal of Clinical Laboratory Science

基　　金：国家自然科学基金资助 (编号 :3 9870 741)

摘　　要：目的　检测分析中国人散发性大肠癌APEX基因 12 4 7位点、2 197位点的单核苷酸多态性 (singlenucleotidepolymorphism ,SNP)状况 ,探讨其与散发性大肠癌发生的关系。 方法　变性梯度凝胶电泳 (denaturinggradientgelelectrophoresis,DGGE)、单链构像多态性 (singlestrandconformationpolymorphism ,SSCP)分别检测 15 0例大肠癌及其周围正常粘膜DNA的APEX基因 12 4 7位点、2 197位点SNP ,并直接测序验证结果。结果　 12 4 7位点经DGGE检测及测序证实有 17例存在A→G的SNP ,导致I 6 4V改变 ;经SSCP检测和测序证实 2 197位点有 38例T→G的SNP ,并导致D14 8E改变。结论　APEX基因SNP分布可能具有明显的种族差异 ,12 4Objective To examine two SNPs (1247 and 2197) of APEX gene and find out the relationship between the SNPs and the development of sporadic colorectal cancer.Methods The SNPs of 1247 and 2197 site of APEX gene in 150 specimens of surgical resection of sporadic colorectal cancers,including the tumor and the corresponding nearby healthy tissue,were examined by standard methods of both denaturing gradient gel electrophoresis (DGGE) and single strand conformation polymorphism (SSCP).Direct sequencing was performed to identify the results.Results DGGE and direct sequencing demonstrated the existence of 1247A→G in the PCR-amplified fragment of exon 3 in 17 cases.2197T→G in the PCR-amplified fragment of exon5 in 37 cases was found by SSCP and direct sequenced.Conclusions The distribution of the SNPs of APEX gene may vary greatly among tribes.The 1247A→G may associated with the occurrence,development and malignant degree of sporadic colorectal cancer in Chinese population.

关 键 词：散发性大肠癌 APEX基因 单核苷酸 多态性 检测 

分 类 号：R735.34[医药卫生—肿瘤]