浙江医学2017，Vol.39Issue(5)：355-357,364,4.DOI:10.12056/j.issn.1006-2785.2017.39.5.2015-1374
慢性肾功能衰竭患者线粒体基因组D-loop区突变研究
Mutations of mitochondrial DNA D-loop region in patients with chronic renal failure
摘要
Abstract
Objective To investigate the sequence variations of mitochondrial D-loop region in chronic renal failure patients and family members.Methods Forty two patients with chronic renal failure (CRF group) and 95 unaffected pedigree members(UAPM group) were recruited in the study,and 122 healthy subjects served as normal controls(NC group).Mitochondrial DNA (mtDNA) was extracted from peripheral blood and the D-loop sequence variations were examined by PCR-based assay.The association between D-Loop gene variations and chronic renal failure was analyzed.Results Compared with normal control,79 sequence variants were detected,mtDNA exhibited a high rate of sequence variants in patients with CRF and pedigree members.Among these,three high variations were found and base variation rate in CRF and UAPM groups were significantly higher than that in normal control group (P＜0.01).The occurrence of mtMSI at D310 in CRF and UAPM groups were higher than that in normal control group (P＜0.01).Conclusion Genome mutations in mitochondrial D-Loop may be relate to the development of chronic renal failure.关键词
线粒体DNA/D-loop/慢性肾功能衰竭/微卫星不稳定/突变Key words
Mitochondrial DNA/D-loop/Chronic renal failure/Microsatellite instability/Mutation引用本文复制引用
金劼,彭政,何援军,姜聪娇,黄百洋,杜晓英..慢性肾功能衰竭患者线粒体基因组D-loop区突变研究[J].浙江医学,2017,39(5):355-357,364,4.基金项目
浙江省医药卫生计划项目(2012KYA181) （2012KYA181）
衢州市科技局项目(20121083) （20121083）
