Fast detection of deletion breakpoints using quantitative PCR

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dc.contributor.authorAbildinova, Gulshara
dc.contributor.authorAbdrakhmanova, Zhanara
dc.contributor.authorTuchinsky, Helena
dc.contributor.authorNesher, Elimelech
dc.contributor.authorPinhasov, Albert
dc.contributor.authorRaskin, Leon
dc.date.accessioned2018-06-07T05:49:10Z
dc.date.available2018-06-07T05:49:10Z
dc.date.issued2016
dc.description.abstractThe routine detection of large and medium copy number variants (CNVs) is well established. Hemizygotic deletions or duplications in the large Duchenne muscular dystrophyDMD gene responsible for Duchenne and Becker muscular dystrophies are routinely identified using multiple ligation probe amplification and array-based comparative genomic hybridization. These methods only map deleted or duplicated exons, without providing the exact location of breakpoints. Commonly used methods for the detection of CNV breakpoints include long-range PCR and primer walking, their success being limited by the deletion size, GC content and presence of DNA repeats. Here, we present a strategy for detecting the breakpoints of medium and large CNVs regardless of their size. The hemizygous deletion of exons 45-50 in the DMD gene and the large autosomal heterozygous PARK2 deletion were used to demonstrate the workflow that relies on real-time quantitative PCR to narrow down the deletion region and Sanger sequencing for breakpoint confirmation. The strategy is fast, reliable and cost-efficient, making it amenable to widespread use in genetic laboratories.en_US
dc.identifier.citationAbildinova, Gulshara, Abdrakhmanova, Zhanara, Tuchinsky, Helena, Nesher, Elimelech, Pinhasov, Albert , Raskin, Leon. (2016) Fast detection of deletion breakpoints using quantitative PCR. Genetics and Molecular Biology. 39, 3, 365-369 pagesen_US
dc.identifier.urihttp://nur.nu.edu.kz/handle/123456789/3326
dc.language.isoenen_US
dc.publisherGenetics and Molecular Biologyen_US
dc.rightsAttribution-NonCommercial-ShareAlike 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/3.0/us/*
dc.subjectdeletion boundariesen_US
dc.subjectdeletion breakpointsen_US
dc.subjectDMD geneen_US
dc.subjectDuchenne and Becker muscular dystrophiesen_US
dc.subjecthemizygous deletionsen_US
dc.subjectheterozygous deletionsen_US
dc.titleFast detection of deletion breakpoints using quantitative PCRen_US
dc.typeArticleen_US
workflow.import.sourcescience

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