利用DNA池和变性高效液相色谱分析bcr和abl基因序列标签位点多态性

Analysis of Sequence-tagged Site in bcr and abl genes by DNA Pooling and dHPLC

为了探讨bcr和abl基因的单核苷酸多态性(SNP)与慢性髓细胞性白血病(CML)的关系,利用DNA池(DNApooling)结合变性高效液相色谱(dHPLC)技术对bcr和abl基因上的9个序列标签位点(sequencetaggedsite,STS)进行序列变异的筛查分析,并通过测序对筛查结果进行验证。研究结果表明,在9个STS片段中检出了4个片段中的多态性位点和3个片段中与参考序列不一致的变异。结论:U07000片段中的SNP在慢性髓性细胞白血病病人和对照人群中的基因频率分布有显著差异。

To investigate the relationship between the single nucleotide polymorphism (SNPs) of the bcr and abl gene and chronic myelogeous leukemia (CML), the 9 sequence-tagged sites (STS) in bcr and abl gene were screened by DNA pooling and denaturing high performance liquid chromatography (dHPLC), and the results were varified by sequencing. The results showed that the polymorphism sites were detected in 4 out of the 9 STS fragments and there were 3 bases different from the reference sequence found in 3 fragments. In conclusion, the novel SNP in U07000 fragment shows significantly different frequencies between CML and controled people.