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心肌病患者线粒体DNA异常的探讨 被引量:2

Study on Mitochondrial DNA Mutation of Patients with Cardiomyopathy
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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.
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
关键词 心肌病 线粒体 DNA 基因缺失 Cardiomyopathy Mitochondrial DNA Gene Deletion
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参考文献7

  • 1黄鹰.碱变性法提取人线粒体DNA[J].遗传与疾病,1991,8(2):99-99.
  • 2Anderson S,et al.Sequence and organization of the human mitochondrial genome. Nature . 1981
  • 3Hattori K,et al.Cardiomyopathy with mitoohondrial DNA mutations. American Heart Journal . 1991
  • 4Berko BA,et al.X--linked dilated cardiomyopathy. The New England Journal of Medicine . 1987
  • 5Holt IJ,Harding AE,Morgan-Hunghes JA,et al.Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature . 1988
  • 6Ozawa T,et al.Muiltiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy. Biochemical and Biophysical Research Communications . 1990
  • 7Wallace DC,et al.Mitochondrial DNA mutation associated with Lebers hereditary optic neuroretinopathy. Science . 1988

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