摘要
目的寻找维持基因稳定性的范可尼贫血(FA)/BRCA途径发生缺陷与急性髓系白血病(AML)潜在发病机制的关系。方法筛选了25株来源于不同亚型的AML细胞株寻找可能存在的FA/BRCA途径缺陷。结果发现在两株AML细胞株:THP-1和M-07e中,存在FANCN表达缺失,这种FANCN蛋白表达缺失与丝裂霉素C诱导的G2期细胞阻滞、细胞生长抑制试验和染色体断裂试验结果相一致。而MLPA及DNA测序法未发现这两株细胞株中存在FANCN编码基因异常。结论FA/BRCA途径发生缺陷与AML发病机制可能存在相关性,FA患者中FA分子途径紊乱是发展为白血病的早期事件。
Objective To find the possible relationship between defects in the FA/BRCA pathway of genomic maintenance and potential pathogenesis of acute myeloid leukaemia. Methods Twenty-five AML cell lines derived from diverse subtypes of AML were screened to investigate for possible defects in FA/BRCA pathway. Results The absence of FANCN protein in two cell lines, THP-1 and M-07e were observed, which was correlated with the results of MMC-induced G2 arrest, growth inhibition and chromosomal breakage test in both cell lines. Butno gene aberrance in these two cell lines by MLPA test and DNA sequencing were found. Conclusion There is a possible relationship between defects in the FA/BRCA pathway and potential pathogenesis of acute myeloid leukaemia. A disturbance of the "FA pathway" may represent an early event in the development of this type of leukaemia.
出处
《白血病.淋巴瘤》
CAS
2008年第4期248-251,共4页
Journal of Leukemia & Lymphoma