BCR基因5'启动子区多态性分析  

Polymorphism Analysis of 5′ Promotor Region of BCR Gene

作　　者：田红[1] 郑维扬[2] 付永贵[3] 林蒋海[3] 吕凤娟[3] 周淑芸[2] 

机构地区：[1]南京军区福州总医院血液科,福建福州350025 [2]第一军医大学南方医院血液科,广东广州510515 [3]中山大学生命科学学院,广东广州510275

出　　处：《癌症》2004年第7期812-815,共4页Chinese Journal of Cancer

摘　　要：背景与目的bcr-abl融合基因被认为是慢性髓系白血病(chronicmyelogenousleukemia,CML)的分子标志,该融合基因的表达受bcr基因启动子的调控。本实验目的是研究bcr基因启动子区的多态性,并探讨其与CML之间可能存在的联系。方法采用PCR方法扩增bcr基因5'启动子区1.13kb的序列范围,通过测序获得了30例CML和19例对照的启动子区序列。应用软件和在线工具对启动子序列进行转录因子结合位点分析和重复序列分析。结果在所研究片段范围内共发现4处新的单核苷酸多态性(singlenucleotidepolymorphism,SNP)和3处与参考序列不一致的碱基变异。其中2处SNPs和1处碱基插入位于转录因子结合位点中或邻近几个碱基内。各多态性基因频率在CML和对照人群中无统计学差异。结论bcr基因的5'启动子区存在一定的序列多态性,主要为SNPs,未能证实其与CML之间存在相关性,但部分SNPs的定位使其有可能对基因的转录和表达产生影响。BACKGROUND & OBJECTIVE: BCR ABL fusion gene is regarded as the molecular hallmark of chronic myelogenous leukemia (CML), and its expression is controlled by the BCR gene promoter. This study was designed to investigate the polymorphism of the promoter region of BCR gene, and its possible correlation with the disease. METHODS: A 1.13 kb fragment of BCR gene 5' promotor region was amplified and sequenced from 30 CML patients and 19 controls. Transcription factor binding sites and repeat sequences in this region were analyzed using softwares and online tools. RESULTS: Four novel single nucleotide polymorphisms (SNPs) and 3 bases different from the reference sequence were detected in the region studied. Among these 2 novel SNPs and 1 different base were located in or near several bases of binding sites. The gene frequencies of the novel SNPs had no significant difference between CML and control people. CONCLUSION: Sequence polymorphisms were found in the 5' promotor region of BCR gene, most of them being SNPs. No relativity can be validated between the SNPs and the disease. But it appears that some SNPs might have the probability of bringing influence to the transcription and expression of the gene.

关 键 词：BCR基因 启动子 多态性 

分 类 号：R346[医药卫生—基础医学]