DELETIONS OF MUSCLE MITOCHONDRIAL-DNA IN MITOCHONDRIAL MYOPATHIES - SEQUENCE-ANALYSIS AND POSSIBLE MECHANISMS
DELETIONS OF MUSCLE MITOCHONDRIAL-DNA IN MITOCHONDRIAL MYOPATHIES - SEQUENCE-ANALYSIS AND POSSIBLE MECHANISMS
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DOI：
10.1093/nar/17.12.4465
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发表时间：
1989-06-26
影响因子：
14.9
通讯作者：
MORGANHUGHES, JA
中科院分区：
文献类型：
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作者：
HOLT, IJ;HARDING, AE;MORGANHUGHES, JA
线粒体肌病是一组主要影响骨骼肌和大脑的多系统疾病，40%的患者有一部分肌肉线粒体DNA（mtDNA）的大缺失。这些在28例中的13例中似乎是相同的，包含在8286-13595 bp区域内。对两个病例中缺失连接的分析表明，在正常基因组中出现的13个核苷酸的序列是突变体mt DNA缺失区域侧翼的直接重复序列。Mt DNA缺失可能由复制过程中短序列重复之间的重组或滑动引起。
Forty per cent of patients with mitochondrial myopathies, a diverse group of multisystem diseases predominantly affecting skeletal muscle and brain, have large deletions of a proportion of muscle mitochondrial DNA (mt DNA). These appeared to be identical in 13 of 28 cases, contained within the region 8286-13595 bp. Analysis of the deletion junction in two cases showed a 13 nucleotide sequence which occurred in the normal genome as a direct repeat flanking the region deleted in the mutant mt DNAs. Mt DNA deletions may arise from recombination or slippage between short sequence repeats during replication.