Verma Prashant K, Dalal Ashwin, Mittal Balraj, Phadke Shubha R
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Indian J Hum Genet. 2012 Jan;18(1):91-4. doi: 10.4103/0971-6866.96667.
Multiplex ligation probe amplification (MLPA) is a new technique to identify deletions and duplications and can evaluate all 79 exons in dystrophin gene in patients with Duchenne muscular dystrophy (DMD). Being semi-quantitative, MLPA is also effective in detecting duplications and carrier testing of females; both of which cannot be done using multiplex PCR. It has found applications in diagnostics of many genetic disorders.
To study the utility of MLPA in diagnosis and carrier detection for DMD.
Mutation analysis and carrier detection was done by multiplex PCR and MLPA and the results were compared.
We present data showing utility of MLPA in identifying mutations in cases with DMD/BMD. In the present study using MLPA, we identified mutations in additional 5.6% cases of DMD in whom multiplex PCR was not able to detect intragenic deletions. In addition, MLPA also correctly confirmed carrier status of two obligate carriers and revealed carrier status in 6 of 8 mothers of sporadic cases.
多重连接探针扩增（MLPA）是一种用于识别缺失和重复的新技术，可评估杜氏肌营养不良症（DMD）患者肌营养不良蛋白基因的所有79个外显子。作为一种半定量技术，MLPA在检测重复和女性携带者检测方面也很有效；而这两项检测都无法通过多重PCR完成。它已在多种遗传疾病的诊断中得到应用。
研究MLPA在DMD诊断和携带者检测中的应用价值。
通过多重PCR和MLPA进行突变分析和携带者检测，并对结果进行比较。
我们提供的数据表明MLPA在识别DMD/BMD病例的突变方面具有应用价值。在本研究中使用MLPA，我们在另外5.6%的DMD病例中鉴定出了多重PCR无法检测到的基因内缺失突变。此外，MLPA还正确地确认了两名肯定携带者的携带者状态，并在8例散发病例的母亲中有6例揭示了携带者状态。
