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首页> 外文期刊>Biochemical Genetics >Improved detection of deletions and duplications in the DMD gene using the multiplex ligation-dependent probe amplification (MLPA) method
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Improved detection of deletions and duplications in the DMD gene using the multiplex ligation-dependent probe amplification (MLPA) method

机译：使用多重连接依赖探针扩增（MLPA）方法改进DMD基因中缺失和重复的检测

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摘要

The multiplex ligation-dependent probe amplification (MLPA) assay is the most powerful tool in screening for deletions and duplications in the dystrophin gene in patients with Duchenne and Becker muscular dystrophy (DMD/BMD). The efficacy of the assay was validated by testing 20 unrelated male patients with DMD/BMD who had already been screened by multiplex PCR (mPCR). We detected two duplications that had been missed by mPCR. In one DMD patient showing an ambiguous MLPA result, a novel mutation (c.3808-3809insG) was identified. MLPA improved the mutation detection rate of mPCR by 15 %. The results of our study (1) confirmed MLPA to be the method of choice for detecting DMD gene rearrangements in DMD/BMD patients, (2) showed that ambiguous MLPA amplification products should be verified by other methods, and (3) indicated that the MLPA method could be used in screening even for small mutations located in the probe-binding regions.
机译：多重连接依赖性探针扩增（MLPA）分析法是筛查杜兴氏和贝克氏肌营养不良症（DMD / BMD）患者的肌营养不良蛋白基因缺失和重复的最有力工具。通过测试已经通过多重PCR（mPCR）筛选的20名无关男性DMD / BMD男性患者，验证了该测定的有效性。我们检测到mPCR遗漏的两次重复。在显示歧义性MLPA结果的一名DMD患者中，鉴定出一种新的突变（c.3808-3809insG）。 MLPA将mPCR的突变检测率提高了15％。我们的研究结果（1）证实MLPA是检测DMD / BMD患者DMD基因重排的首选方法;（2）表明不明确的MLPA扩增产物应通过其他方法进行验证;（3）表明MLPA方法甚至可以用于筛选位于探针结合区的微小突变。

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