Molecular investigations of mitochondrial deletions: Evaluating the usefulness of different genetic tests

Molecular investigations of mitochondrial deletions: Evaluating the usefulness of different genetic tests
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DOI：
10.1016/j.gene.2012.06.081
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发表时间：
2012-09-10
期刊：
GENE
影响因子：
3.5
通讯作者：
Krajewska-Walasek, Malgorzata
Krajewska-Walasek, Malgorzata
中科院分区：
生物学3区
文献类型：
--
作者：
Tonska, Katarzyna;Piekutowska-Abramczuk, Dorota;Krajewska-Walasek, Malgorzata

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线粒体DNA的缺失是线粒体疾病的常见原因。多年来，mtDNA缺失的分子诊断是基于Southern杂交，后来被PCR方法所取代，例如使用特定缺失的引物进行PCR（主要是所谓的4977bp的共同缺失）和长PCR。在大规模mtDNA缺失的分子诊断中，我们比较了四种诊断方法：Southern杂交，PCR，长PCR和MLPA在一组16例疑似缺失的患者。MLPA不能确认PCR方法检测到的所有缺失，但由于其相对容易的处理，最小的设备，低成本和额外的可能性，以检测频繁的点mtDNA突变在一个分析是值得考虑作为一种筛查方法。我们建议始终通过PCR方法确认MLPA结果。(C)2012 Elsevier B.V.保留所有权利。
Deletions in mitochondrial DNA are a common cause of mitochondrial disorders. The molecular diagnosis of mtDNA deletions for years was based on Southern hybridization later replaced by PCR methods such as PCR with primers specific for a particular deletion (mainly the so-called common deletion of 4977 bp) and long PCR.In order to evaluate the usefulness of MLPA (Multiplex Ligation-dependent Probe Amplification) in molecular diagnosis of large scale mtDNA deletions we compare four diagnostic methods: Southern hybridization, PCR, long-PCR and MLPA in a group of 16 patients with suspected deletions. Analysis was performed on blood, muscle and in one case hepatic tissue DNA.The MLPA was not able to confirm all the deletions detected by PCR methods, but due to its relative ease of processing, minimal equipment, low costs and the additional possibility to detect frequent point mtDNA mutations in one assay it is worth considering as a screening method. We recommend to always confirm MLPA results by PCR methods. (C) 2012 Elsevier B.V. All rights reserved.