Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA)
نویسندگان
چکیده
منابع مشابه
Methylation-Specific Multiplex Ligation-Dependent Probe Amplification (MS-MLPA).
This chapter describes a method for the rapid assessment of promoter hypermethylation levels or methylation of imprinted regions in human genomic DNA extracted from various sources using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). Multiplex ligation-dependent probe amplification (MLPA) is a powerful and easy-to-perform PCR-based technique that can identify g...
متن کاملApplications of multiplex ligation-dependent probe amplification (MLPA) method in diagnosis of cancer and genetic disorders
Introduction: Lots of human diseases and syndromes result from partial or complete gene deletions and duplications or changes of certain specific chromosomal sequences. Many various methods are used to study the chromosomal aberrations including Comparative Genomic Hybridization (CGH), Fluorescent in Situ Hybridization (FISH), Southern blots, Multiplex Amplifiable Probe Hybridisation (MAP...
متن کاملDesigning a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome.
Copy number variants (CNVs) are pervasive in the human genome and are responsible for many Mendelian diseases and genomic disorders. The detection of CNVs is an essential element of a complete mutation screening strategy. Many techniques have been developed for gene dosage testing. Multiplex ligation-dependent probe amplification (MLPA) is a robust, easy and flexible technique that can detect b...
متن کاملcan we rely on the multiplex ligation-dependent probe amplification method (mlpa) for prenatal diagnosis?
background: the major aneuploidies that are diagnosed prenatally involve the autosomal chromosomes 13, 18, and 21, as well as sex chromosomes, x and y. because multiplex ligation-dependent probe amplification (mlpa) is rapid and non-invasive, it has replaced traditional culture methods for the screening and diagnosis of common aneuploidies in some countries. objective: to evaluate the sensitiv...
متن کاملDetecting 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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ژورنال
عنوان ژورنال: BMC Bioinformatics
سال: 2008
ISSN: 1471-2105
DOI: 10.1186/1471-2105-9-261