TRANSCRIPTION OF THE DYSTROPHIN GENE IN HUMAN-MUSCLE AND NON-MUSCLE TISSUES
TRANSCRIPTION OF THE DYSTROPHIN GENE IN HUMAN-MUSCLE AND NON-MUSCLE TISSUES
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DOI：
10.1038/333858a0
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发表时间：
1988-06-30
期刊：
影响因子：
64.8
通讯作者：
KAHN, A
中科院分区：
文献类型：
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作者：
CHELLY, J;KAPLAN, JC;KAHN, A
杜氏肌营养不良症和贝克尔肌营养不良症患者的缺陷基因由约 60 个短外显子组成，分布在跨越约 2 兆碱基对的巨大 DNA 区域1,2。编码的蛋白质抗肌营养不良蛋白最近被定性为低丰度肌肉细胞内膜的组成部分3,4。肌营养不良蛋白信使 RNA 很难在正常和病理组织标本中进行研究，因为它很大（14 KB）且稀缺（占总肌肉 mRNA 的 0.01-0.001%）2。我们在此报告，通过聚合酶链式反应程序对肌营养不良蛋白基因和报告基因醛缩酶 A 的 mRNA 进行有效的体外共扩增，使我们能够获得肌营养不良蛋白基因转录本的定量估计。因此，在 13 种不同的人体组织中检测到了经过处理、转录的片段。它在骨骼肌中占总 mRNA 的 0.02-0.12%，在类淋巴母细胞中则少 25,000 倍。
The gene that is defective in patients with Duchenne and Becker muscular dystrophy consists of about 60 short exons scattered along a gigantic DNA region that spans some 2 megabase pairs1,2. The encoded protein, dystrophin, was recently characterized as a component of muscle intracellular membranes of low abundance3,4. The dystrophin messenger RNA is difficult to study in both normal and pathological tissue specimens because it is large (14 kilobases) and scarce (0.01–0.001% of total muscle mRNA)2. We report here that efficientin vitroco-amplifications of the mRNAs of the dystrophin gene and of a reporter gene, aldolase A, by the poly-merase chain reaction procedure5enables us to obtain a quantitative estimate of the dystrophin gene transcript. A processed, transcribed segment was thus detected in 13 different human tissues. It ranged from 0.02–0.12% of total mRNA in skeletal muscle to 25,000 times less in lymphoblastoid cells.