骨髓增生异常综合征患者线粒体DNAD-loop区突变研究  

The D-loop region of mitochondrial DNA in myelodysplastic syndromes

作　　者：靳红[1] 丛雅琴[1] 胡晓静[1] 姜育杰 

机构地区：[1]山东大学齐鲁医院血液内科,济南250012 [2]山东省省立医院血液科,济南250021

出　　处：《山东大学学报（医学版）》2008年第5期453-456,461,共5页Journal of Shandong University:Health Sciences

基　　金：山东省自然科学基金资助项目(2005HZ049)

摘　　要：目的检测骨髓增生异常综合征(myelodysplastic syndrome,MDS)患者线粒体DNA D-loop区的突变。方法提取42例MDS患者骨髓以及口腔上皮组织的线粒体DNA,对线粒体DNA D-loop区两个高变区(HV1和HV2)进行PCR扩增,通过直接测序的方法对PCR产物的基因序列进行检测。结果在42例MDS患者中有6例患者出现突变,突变率为14.29%。突变位点19个,10个位于HV1区,9个在HV2区,其中包括5个微卫星不稳定,其余为A、G或者C、T之间的碱基置换。结论MDS存在线粒体DNA D-loop区的突变,可能在疾病的发生发展中起重要作用。Objective To investigate mitochondrial DNA mutation in myelodysplastic syndromes. Methods The mtDNA of 42 patients with myelodysplastic syndromes was extracted from both bone marrow and buccal epithelial cells. Hypervariable regions （HV1 and HV2）in the D-loop of the mtDNA were amplified by PCR, and then were sequenced. Results Nineteen mutations in the D-loop region were found in 6（14.29% ） MDS cases. Five micro-satellites were unstable, and the others were point mutations. Conclusion Mutations in the D-loop region of mitochondrial DNA were found in MDS patients and they might play an important role in the pathogenesis of myelodysplastic syndromes.

关 键 词：骨髓增生异常综合征 DNA 线粒体 突变 单核苷酸多态性 

分 类 号：R551.3[医药卫生—血液循环系统疾病]