激光生物学报2015，Vol.24Issue(6)：539-544,6.DOI:10.3969/j.issn.1007-7146.2015.06.009
原发性扩张型心肌病的线粒体tRNA基因突变分析
Mutation Analysis of Mitochondrial tRNA Gene in Patients with Primary Dilated Cardiomyopathy
摘要
Abstract
To identify the potential pathogenic mutations of mitochondrial tRNA in patients with primary dilated cardio-myopathy(DCM) and the possible association of the mutations with DCM.Paraffin-embedded myocardial tissues from two patients with DCM and 10 healthy controls,which were discarded after forensic examination,were used for the study.PCR amplification wasperformed for the mitochondrial tRNA genes and direct sequencing was conducted.Sequencing re-sults showed no variation for mitochondrial tRNA genes in the normal myocardial tissues.The tRNAVal G1664A variation and tRNAMet T4454C variation were identified in patients with DCM.These two variations were previously reported as polymorphism in MitoMap.There was no pathogenic mutation detected in mitochondrial tRNA genes of the two patients with DCM.A patient pool of large sample size is expected for analysis of the pathogenic mutations,polymorphism loci and haplogroup that might be associated with DCM.关键词
扩张型心肌病/线粒体tRNA基因Key words
dilated cardiomyopathy/mitochondrial tRNA gene分类
医药卫生引用本文复制引用
李红超,舒红英,李晓杰,倪斌,谢海龙,周海燕,倪崖..原发性扩张型心肌病的线粒体tRNA基因突变分析[J].激光生物学报,2015,24(6):539-544,6.基金项目
湖南省科技厅科技计划一般项目(2013SK3295) （2013SK3295）
