摘要
为寻找原发性扩张型心肌病病例是否存在已知以及未知的线粒体tRNA致病性突变,以探讨扩张型心肌病可能的发病原因。收集2例原发性扩张型心肌病患者和10例正常对照尸检心肌组织石蜡标本,针对22种线粒体tRNA基因分别设计一对引物,PCR扩增后并测序分析线粒体tRNA基因突变情况。结果在对照样本中未检测到线粒体tRNA变异位点,在1例患者中检测到了tRNA^(Val)基因G1664A变异,Mitomap已有报道为多态性位点;于另1例患者中检测到tRNA^(Met)T4454C变异,有文章报道该位点与线粒体功能障碍有关,Mitomap报道为多态性位点。本研究中2例病例中未检测到线粒体tRNA致病性突变位点,可能与病例个体的心衰程度有关,有必要扩大样本量深入研究线粒体tRNA以及mt DNA其他基因突变与原发性扩张型心肌病之间的关系,以寻找可能的致病突变位点、易感的多态性位点或者单倍体群,为认识原发性扩张型心肌病的发病机制进一步提供理论基础和依据。
To identify the potential pathogenic mutations of mitochondrial tRNA in patients with primary dilated cardiomyopathy( 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 results showed no variation for mitochondrial tRNA genes in the normal myocardial tissues. The tRNAValG1664 A variation and tRNAMetT4454 C variation were identified in patients with DCM. These two variations were previously reported as polymorphism in Mito Map. 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.
出处
《激光生物学报》
CAS
2015年第6期539-544,共6页
Acta Laser Biology Sinica
基金
湖南省科技厅科技计划一般项目(2013SK3295)
