Bcr基因断裂丛集区多态性分析  

Polymorphisms in the Breakpoint Cluster Region of Bcr Gene

作　　者：田红[1] 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]南方医科大学南方医院血液科,广东广州510515

出　　处：《中国实验血液学杂志》2008年第3期659-662,共4页Journal of Experimental Hematology

摘　　要：本研究旨在探讨bcr基因的断裂丛集区在中国人群中的单核苷酸多态性(SNP)及该多态性与慢性髓系白血病(CML)之间的关系。利用DNA库(DNA pooling)结合变性高效液相色谱(dHPLC)对长度为3.12kb的bcr基因断裂丛集区进行序列变异的筛查分析,并通过测序对筛查结果进行了验证。结果表明,该区域有6处新的多态性位点和2处与参照序列不一致的碱基,研究获得了这些多态位点在所调查的人群中的多态性频率,其中1处SNP位于外显子13中,可引起错义突变。对CML和对照组的多态性频率的比较表明,这些新发现的SNP在两组间无显著差异。结论:bcr基因主要断裂丛集区存在一定的序列多态性,主要为SNP,但未能证实其与CML之间存在相关性。This study was aimed to explore the single nucleotide polymorphism （SNPs） of breakpoint clusler region of bcr gene in Chinese people and the relationship between SNPs and chronic myelogenous leukemia（CML）. A 3.12 kb region spaning from exon 13 to exon 15 in the tcr region were screened by DNA pooling and denaturing high performance liquid chromatography （dHPLC）, and the results were varified by sequencing. The results indicated that 6 novel SNP sites and 2 bases different from reference sequence were confirmed in the region studied, and the frequency of 6 novel SNP sites in studied population was obtained, one SNP of which was found in exon 13 and caused a nonsynonymous mutation. The gene frequencies of novel SNPs had no significant difference between CML and control people. it is concluded that sequence polymorphisms in the major breakpoint cluster region of bcr gene are found, most of which are SNPs, No relationship can be confirmed between SNPs and CML disease.

关 键 词：BCR基因 单核苷酸多态性 断裂丛集区 慢性髓细胞性白血病 

分 类 号：R733.72[医药卫生—肿瘤]