Application of multiplex ligation-dependent probe amplification in the genetic testing of oculocutaneous albinism
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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...
متن کاملLigation-independent mechanism of multiplex ligation-dependent probe amplification.
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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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 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 کاملGenetic heterogeneity in uveal melanoma assessed by multiplex ligation-dependent probe amplification.
PURPOSE To determine intratumor genetic heterogeneity in uveal melanoma (UM) by multiplex ligation-dependent probe amplification (MLPA) in formalin-fixed, paraffin-embedded (FFPE) tumor tissues. METHODS DNA was extracted from whole tumor sections and from two to nine different areas microdissected from 32 FFPE UMs. Thirty-one loci on chromosomes 1, 3, 6, and 8 were tested with MLPA for copy n...
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ژورنال
عنوان ژورنال: Chinese Medical Journal
سال: 2019
ISSN: 0366-6999
DOI: 10.1097/cm9.0000000000000356