Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis
作者： Rowida Almomani , Nienke van der Stoep , Egbert Bakker , Johan T. den Dunnen , Martijn H. Breuning
DOI: 10.1016/J.NMD.2009.03.004
关键词: Muscular dystrophy 、 High Resolution Melt 、 Duchenne muscular dystrophy 、 Genetic variation 、 Mutation 、 Genetics 、 Dystrophin 、 Amplicon 、 Biology 、 Polymerase chain reaction 、 Genetics(clinical) 、 Pediatrics, Perinatology, and Child Health 、 Neurology 、 Clinical neurology
摘要: Duchenne/Becker muscular dystrophy (DMD/BMD) is caused by large deletions or duplications in two-thirds of the cases. The remaining one-third DMD patients have small mutations gene. Screening for such a daunting and costly task. High resolution melting curve analysis (HR-MCA) followed sequencing amplicons with altered profiles can be used to scan DNA alterations. We first validated technique as screening procedure gene then screened group unrelated 22 DMD/BMD 11 females. managed identify all previously found means HR-MCA, which provided its validation. Furthermore, 17 different pathogenic were group, 10 novel. Our results provide validation HR-MCA powerful inexpensive pre-sequencing scanning method. This technology now ready routine diagnostic use on female carriers.
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