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线粒体DNA作为一种重要的核外遗传成份与人类疾病的关系直到最近几年才受到重视。1988年Wallace等人首先报道了线粒体DNA的突变与Leber′s视神经萎缩症有关。国内尚未开展这方面的研究。最近,南京铁道医学院生物教研室用DNA分子杂交技术、以同位素标记的线粒体DNA为探针研究了Leber′s病发病的分子机理,在国内首先发现Leber′s病是由于线粒体DNA的第11778位碱基由G→A突变引起的。由于这种突变使呼吸链NADH脱氢酶4的第340位氨基酸由精氨酸变成
The relationship between mitochondrial DNA as an important extranuclear genetic component and human diseases has not been given much attention in recent years. In 1988, Wallace et al. First reported that mutations in mitochondrial DNA were associated with Leber’s optic atrophy. Domestic research has not yet carried out in this area. Recently, with the DNA molecular hybridization technology of Nanjing Railway Medical College, the molecular mechanism of Leber’s disease was investigated with isotope-labeled mitochondrial DNA. It was found in the domestic first that Leber’s disease was caused by the first 11778 of mitochondrial DNA The base is caused by a G → A mutation. Due to this mutation, the 340th amino acid in the respiratory chain NADH dehydrogenase 4 is changed from arginine to