High-Throughput Copy Number Profiling by Digital Multiplex Ligation-Dependent Probe Amplification in Multiple Myeloma
نویسندگان
چکیده
منابع مشابه
Applications 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...
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Multiplex ligation-dependent probe amplification (MLPA) is a widely used technique for detecting genomic structural variants. The technique is based on hybridization and ligation, followed by amplification of the ligation products. Therefore, ligation is considered a fundamental process that determines the feasibility and fidelity of MLPA. However, despite the widespread use of this technique, ...
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GATA4 mutations are found in patients with different isolated congenital heart defects (CHDs), mostly cardiac septal defects and tetralogy of Fallot. In addition, GATA4 is supposed to be the responsible gene for the CHDs in the chromosomal 8p23 deletion syndrome, which is recognized as a malformation syndrome with clinical symptoms of facial anomalies, microcephaly, mental retardation, and cong...
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...
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spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by homozygous deletion of the survival motor neuron gene 1 (smn1) in more than 90% of patients. according to the age of onset and severity of the disease, sma is classified into three groups: type i (severe), type ii (intermediate) and type iii (mild). as reported, the smn2 gene, centromeric copy gene, showed ...
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ژورنال
عنوان ژورنال: The Journal of Molecular Diagnostics
سال: 2018
ISSN: 1525-1578
DOI: 10.1016/j.jmoldx.2018.06.004