Comparison of multiplex ligation-dependent probe amplifi cation (MLPA) analysis versus multiplex PCR assays in the detection of dystrophin gene

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Applications of multiplex ligation-dependent probe amplification (MLPA) method in diagnosis of cancer and genetic disorders

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Use of multiplex ligation-dependent probe amplification (MLPA) for Duchenne muscular dystrophy (DMD) gene mutation analysis.

BACKGROUND & OBJECTIVES Duchenne (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders, caused by mutations in the dystrophin gene. Genetic diagnosis of the proband becomes crucial, and forms the base for carrier analysis, genetic counselling, prediction of natural history and prognosis, and eligibility for therapeutic strategies. Traditional multiplex PCR assay is the comm...

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Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA).

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 mu...

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Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method.

Mutation detection in the DMD gene defective in Duchenne (DMD) and Becker muscular dystrophies (BMD) is complicated by the presence of 79 exons. The majority of recognized mutations are, however, copy number changes of individual exons, which traditionally have been identified by three common multiplex polymerase chain reaction (PCR) assays and/or Southern blotting. Here we report the use of th...

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ژورنال

عنوان ژورنال: Bioscience Biotechnology Research Communications

سال: 2016

ISSN: 0974-6455,2321-4007

DOI: 10.21786/bbrc/19.1/19