Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA)
Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA)
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DOI：
10.1016/j.clinbiochem.2005.11.019
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发表时间：
2006-04-01
影响因子：
2.8
通讯作者：
Lam, STS
中科院分区：
文献类型：
--
作者：
Lai, KKS;Lo, IFM;Lam, STS
目的：比较多重连接依赖性探针扩增（MLPA）技术与传统多重PCR检测DMD基因外显子缺失和重复的效果。设计和方法：对63例受试者（包括43例Duchenne型肌营养不良症（DMD）和Becker型肌营养不良症（BMD））进行MLPA检测，并与多重PCR检测结果进行比较结果：MLPA能够检测所有已知的缺失和重复，它检测到4个额外的突变，已经错过了多重PCR。此外，可以更准确地定义的缺失和重复的程度，这反过来又促进了基因型-表型correlation.Conclusions：MLPA是上级多重PCR。它应该是DMD或BMD患者以及女性携带者DMD基因外显子缺失和重复检测的首选方法。(c)2005年加拿大临床化学家协会。All rights reserved.
Objectives: To evaluate the efficacy of Multiplex Ligation-dependent Probe Amplification (MLPA) technique in comparison with the traditional multiplex PCR assay in detection of exon deletions and duplications of the DMD gene.Design and methods: The sensitivity and accuracy of MLPA were assessed and compared with the multiplex PCR in a total of 63 Subjects including 43 subjects with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) and 20 female carriers.Results: MLPA was able to detect all the known deletions and duplications; it detected four additional mutations that had been missed by multiplex PCR. In addition, the extent of the deletions and duplications could be more accurately defined which in turn facilitated a genotype-phenotype correlation.Conclusions: MLPA is superior to multiplex PCR. It should be the method of choice for the detection of exon deletions and duplications of the DMD gene in patients with DMD or BMD, as well as in female carriers. (c) 2005 The Canadian Society of Clinical Chemists. All rights reserved.