中文摘要：

目的研究线粒体DNA的D—loop区突变与白血病发生、发展的关系。方法应用盐析法对8例初治的成人急性髓系白血病患者及其生母和正常无关对照者的外周血基因组DNA提取、线粒体基因D—loop区PCR扩增、序列测定，对比分析白血病患者的线粒体基因D—loop区序列与其生母和健康无关对照者的线粒体基因D—loop区序列与标准剑桥线粒体基因D—loop区序列的差异。结果8例白血病患者中6例存在突变（突变率75％），共查出突变位点11个，突变类型均为D—loop区的T-C、A—C、G—A碱基替代突变。结论线粒体DNA的D—loop区在白血病患者中的突变率较高，D—loop区的突变在白血病发生发展过程中可能起作用。

英文摘要：

Objective To investigate the relationship between the mitochondrial D-loop mutation and acute myeloid leukemia. Methods The D-loop region of mtDNA of leucocyte in eight acute newly diagnosed myeloid leukemia patients, their mothers and eight age-, sex-, and nationality-matched normal controls were isolated, amplified by PCR, and the sequences of mtDNA D-loop region of patients were compared with those of their biological mothers, the normal control and the Cambridge. Results Among eight acute myeloid leukemia samples, eleven points of mutations were identified with a mutation rate of 75%.The mutation type included T-C, A-C,G-A, and substitution. Conclusions The D-loop region of mitochondrial DNA is a highly mutable region and the mutation rate is relatively high in patients with acute myeloid leukemia. There might be some effects of D-loop region mutation on etiology and progression of acute myeloid leukemia.