急性白血病患者线粒体DNA D-loop区突变的临床研究  

The study of mutation detection on mitochondrial DNA D-loop region in patients with acute leukemia

作　　者：陈萍[1] 董学斌[1] 赵红玉[1] 邵建华[1] 韩卉[1] 顾琳萍[1] 李大启[1] 

机构地区：[1]山东大学附属济南市中心医院血液内科,济南250013

出　　处：《临床血液学杂志》2014年第3期371-374,378,共5页Journal of Clinical Hematology

摘　　要：目的:研究急性白血病(AL)患者线粒体DNA(mtDNA)D-loop区突变及其与AL发病的关系。方法:提取38例初治AL患者骨髓单个核细胞mtDNA,对mtDNA D-loop区序列进行PCR扩增,通过正反向直接测序对PCR扩增产物基因序列进行检测,将测序结果与剑桥标准序列和有关数据库进行对照。结果:AL患者mtDNA D-loop区突变率为71.1%(27/38),在102个位点共发现了324个碱基改变,最常见的碱基置换是T-C(26.9%)和C-T(20.1%),其次是A-G(16.7%),其中57个为突变位点,发现一个新的突变类型nt150C-CT;急性淋巴细胞白血病和急性非淋巴细胞白血病患者的突变差异无统计学意义(P>0.05);有和无mtDNA D-loop区突变患者的无事件生存率亦差异无统计学意义(P=0.894)。结论:AL患者中存在mtDNA D-loop区高频突变,mtDNA D-loop区的突变可能与AL的发生有关。Objective：To explore the mutation D-loop region of mitochondrial DNA（mtDNA）in acute leukemia（AL）patients and its relationship with AL.Method：The mutations in D-loop region of mtDNA was detected in bone marrow mononuclear cell from 38patients with untreated AL by polymerase chain reaction（PCR）,the sequences of PCR products by the pros and cons direct sequencing methods were detected.The sequencing results were compared with the revised Cambridge reference sequence（rCRS）and the relevant database.Result：A total of 324variations were observed at 102positions in the D-Loop of 27/38（71.1%）patients.The most common variations were T-C（26.9%）and C-T（20.1%）followed by A-G（16.7%）.Among the 324variations,57was mutations.A new type of mutation nt150C-CT was found.The mutations in acute lymphoblastic leukemia and acute non-lymphocytic leukemia showed no significance（P〉0.05）.There was no significant difference in the event-free survival of patients with or without any variations（P=0.894）.Conclusion：There is high frequency of mutations in D-loop region of mtDNA and the mutations may be associated with the occurence of AL.

关 键 词：急性白血病 线粒体DNA D-LOOP区 突变 

分 类 号：R733.71[医药卫生—肿瘤]