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检测包含线粒体基因组缺失连接点的DNA片段。

Detection of DNA fragments encompassing the deletion junction of mitochondrial genome.

作者信息

Goto Y, Nishino I, Horai S, Nonaka I

机构信息

Department of Ultrastructural Research, National Institute of Neuroscience, Tokyo, Japan.

出版信息

Biochem Biophys Res Commun. 1996 May 15;222(2):215-9. doi: 10.1006/bbrc.1996.0724.

DOI:10.1006/bbrc.1996.0724
PMID:8670185
Abstract

Deletions and occasional duplications in mitochondrial DNA have been known to be present in mitochondrial diseases and in aged tissues. The junctional sequences of the rearrangements must be determined for detecting duplication, but its procedures seem laborious for routine examination. The joint method of long polymerase chain reaction plus digestion by three restriction enzymes provides a simple method to detect and map the deletion sites of mitochondrial DNA.

摘要

线粒体疾病和衰老组织中存在线粒体DNA的缺失以及偶尔的重复现象。为了检测重复,必须确定重排的连接序列,但其操作程序对于常规检查而言似乎很繁琐。长聚合酶链反应结合三种限制性酶消化的联合方法提供了一种检测和定位线粒体DNA缺失位点的简单方法。

相似文献

1
Detection of DNA fragments encompassing the deletion junction of mitochondrial genome.检测包含线粒体基因组缺失连接点的DNA片段。
Biochem Biophys Res Commun. 1996 May 15;222(2):215-9. doi: 10.1006/bbrc.1996.0724.
2
Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia.常染色体显性进行性眼外肌麻痹中线粒体DNA的克隆性扩增及多个缺失
Ann Neurol. 1996 Nov;40(5):707-13. doi: 10.1002/ana.410400506.
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Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy.与常染色体隐性遗传性眼肌麻痹和严重心肌病相关的多个线粒体DNA缺失。
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Detection and quantification of mitochondrial DNA deletions.
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Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form.在线粒体DNA缺失患者中可检测到线粒体DNA重排家族:重复可能是一种短暂的中间形式。
Hum Mol Genet. 1993 Jan;2(1):23-30. doi: 10.1093/hmg/2.1.23.
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Association of myopathy with large-scale mitochondrial DNA duplications and deletions: which is pathogenic?肌病与大规模线粒体DNA重复和缺失的关联:何者具有致病性?
Ann Neurol. 1997 Aug;42(2):180-8. doi: 10.1002/ana.410420208.
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S1 nuclease hybrid analysis of mitochondrial DNA amplified by long-distance PCR: rapid screening for small-scale rearrangements.通过长距离聚合酶链反应扩增的线粒体DNA的S1核酸酶杂交分析:小规模重排的快速筛查
Nucleic Acids Res. 1997 Jun 15;25(12):2535-6. doi: 10.1093/nar/25.12.2535.
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Different tissue distribution of a mitochondrial DNA duplication and the corresponding deletion in a patient with a mild mitochondrial encephalomyopathy: deletion in muscle, duplication in blood.一名患有轻度线粒体脑病患者中线粒体DNA重复及相应缺失的不同组织分布:肌肉中存在缺失,血液中存在重复。
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Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses.常染色体显性和隐性疾病中的多种线粒体DNA缺失特征提示了不同的发病机制。
Neurology. 1998 Jan;50(1):99-106. doi: 10.1212/wnl.50.1.99.

引用本文的文献

1
Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions.136例单一大规模线粒体DNA缺失患者的基因型和表型分析。
J Hum Genet. 2008;53(7):598. doi: 10.1007/s10038-008-0289-8. Epub 2008 Apr 15.
2
A unique junctional palindromic sequence in mitochondrial DNA from a patient with progressive external ophthalmoplegia.一名进行性眼外肌麻痹患者线粒体DNA中的独特连接区回文序列。
Mol Pathol. 2000 Dec;53(6):333-5. doi: 10.1136/mp.53.6.333.
3
The association between haematological manifestation and mtDNA deletions in Pearson syndrome.
J Inherit Metab Dis. 1997 Sep;20(5):697-703. doi: 10.1023/a:1005378527077.
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Severe lactic acidosis and neonatal death in Pearson syndrome.皮尔逊综合征中的严重乳酸酸中毒与新生儿死亡
J Inherit Metab Dis. 1997 Mar;20(1):43-8. doi: 10.1023/a:1005305422544.