心肌病患者线粒体DNA异常的探讨  

Study on Mitochondrial DNA Mutation of Patients with Cardiomyopathy

作　　者：张丽容[1] 刘迺丰 陈日新[1] 张丽珊[2] 黄鹰[2] 李方园[2] 王世浚[2] 

机构地区：[1]南京铁道医学院附属医院心内科,210009 [2]南京铁道医学院生物教研室

出　　处：《中国优生与遗传杂志》1993年第4期6-7,12-136,共4页Chinese Journal of Birth Health & Heredity

摘　　要：心肌病的病因至今未明,它被认为是一种多原因、多因素的疾病。其中,线粒体DNA缺失也是原因之一。本文采用PCR法,对12例心肌病者的血细胞以及其中4例患者骨骼肌细胞的线粒体DNA,进行了在第11012—11980位片段内的检测,均未见有缺失,对此结果进行了初步讨论,为从分子水平进一步探讨心肌病的病因打下基础。Although the genesis of cardiomyopathy has not been fully elucidated, cardiomyopathy is accepted as a pluricausal or multifactorial disease. The mitochondrial DNA (mtDNA) mutation might be a contributory factor to genesis of cardiomyopathy. Multiple mtDNA deletions has been found in cardiomyocytes of some patients with idiopathic cardiomyopathy. In this paper we detected the blood cells mtDNA of 12 patients with hypertrophic or dilated cardiomyopathy and the skeletal muscle mtDNA of 4 patients of them by PCR amplification using primers L11012 and H 11980. The mtDNA deletions were not found in the 968 bp region.

关 键 词：心肌病 线粒体 DNA 基因缺失 

分 类 号：R394[医药卫生—医学遗传学]