hCDC6在急性髓性白血病中的表达与突变  

Expression of hCDC6 mutation in acute myeloid leukemia

作　　者：钟立业[1] 刘天浩[2] 林旭滨[3] 杜欣[1] 林伟[1] 黄颖强[4] 钟雪云[5] 

机构地区：[1]广东省人民医院血液科,广州510080 [2]中山大学第二附属医院肿瘤科 [3]中山大学附属肿瘤医院肿瘤科 [4]暨南大学信息科学技术学院 [5]暨南大学医学院病理教研室

出　　处：《白血病．淋巴瘤》2006年第3期183-185,共3页Journal of Leukemia & Lymphoma

基　　金：广东省人民医院科研基金项目(Y200517)

摘　　要：目的探讨人类细胞分裂周期蛋白6(hCDC6)在急性髓性白血病的表达与突变及其临床意义。方法应用巢式PCR技术,检测96例白血病患者外周血的hCDC6mRNA表达情况,对出现异常表达的样本,经测序后,通过基因比对鉴定突变类型,并对突变样本的患者进行临床随访。结果在5例难治性的急性髓性白血病患者中,发现hCDC6两种新的缺失性突变,一种为一段269bp核苷酸序列缺失,另一种为136bp及64bp两段核苷酸序列缺失,两种突变有共同的64bp的核苷酸片段缺失区。结论两种新的hCDC6缺失突变可能与急性髓性白血病细胞的恶性增生及原发耐药相关。Objective To investigate the clinical significance of human cell division cycle 6 （hCDC6） mutation in the patients with acute myeloid leukemia. Methods All mRNA level in peripheral blood were detected by nest PCR using hCDC6 as the biochemistry mark in 96 cases of patients with leukemia. Purified extension product with unexpected special signals were used for sequencing, and sequencing results were identified by NIBI Blast with internet. All patients were followed up. Results Sequence analysis revealed two novel deletion mutation of hCDC6 in five patients with acute myeloid leukemia, which one was consisting of a 269bp deletion, and the other was consisting of a 64 bp deletion and 136 bp deletion. Two mutations contained a common piece of deleted sequence, of which size were 64bp. Conclusion Novel deletion mutation may be related with malignant proliferation of leukemic cells and idiopathic drug resistance of acute myeloid leukemic cells.

关 键 词：人类细胞分裂周期蛋白6 急性髓性白血病 突变 

分 类 号：R733.71[医药卫生—肿瘤]