白血病线粒体DNA突变的研究
线粒体DNA,,线粒体DNA；,突变；,白血病,1材料与方法,2结果,3讨论,参考文献
摘 要 目的：研究mtDNA突变与白血病发生、发展的关系。方法：测定26例成人白血病患者的骨髓和口腔上皮正常组织的mtDNA基因组全序列。结果：发现26例白血病病人中11例有突变(42.3%)，突变类型均为碱基替代突变，其中3例突变位于Cyt b基因(其中有1个是异质性突变)，2例位于D-loop，其他6例分别位于复合物Ⅰ(ND1、ND2、ND4、ND5、ND6)基因和12sRNA基因。结论：线粒体突变特别是在基因 Cyt b的突变可能在白血病的发生发展过程中起重要作用。关键词 线粒体DNA； 突变； 白血病
Study on the relationship between mitochondrial DNA mutations and leukemia
LUO Liewei1, Taylor RW2, Turnbull DM2
(1. Department of Biochemistry,Guangdong College of Pharmacy, Guangzhou,Guangdong 510240; 2. Mitochondrial Research Group, Medical School, University of Newcastle,Upon Tyne，UK)
Abstract In recent years many studies showed that mitochondrial DNA mutations have been associated with various human malignancy. For future study the relationship between mitochondrial DNA mutations and leukemia, we therefore sequenced the whole mitochondrial genome from both buccal epithelial cells and bone marrow from twenty-six patients with leukemia. Results: Eleven mutations were identified in twenty-six cases (42.3%), they were all point mutations. Among eleven mutations there were three mutations locating in gene Cyt b, two mutations locating in D-loop, six mutations locating in compoundⅠand gene 12sRNA. The results imply that the mitochondrial DNA mutations have an importantrole in pathogenesis of leukemia. ......
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