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Fast detection of deletion breakpoints using quantitative PCR

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dc.contributor.author Abildinova, Gulshara
dc.contributor.author Abdrakhmanova, Zhanara
dc.contributor.author Tuchinsky, Helena
dc.contributor.author Nesher, Elimelech
dc.contributor.author Pinhasov, Albert
dc.contributor.author Raskin, Leon
dc.date.accessioned 2018-06-07T05:49:10Z
dc.date.available 2018-06-07T05:49:10Z
dc.date.issued 2016
dc.identifier.citation Abildinova, 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 pages en_US
dc.identifier.uri http://nur.nu.edu.kz/handle/123456789/3326
dc.description.abstract The 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.language.iso en en_US
dc.publisher Genetics and Molecular Biology en_US
dc.rights Attribution-NonCommercial-ShareAlike 3.0 United States *
dc.rights.uri http://creativecommons.org/licenses/by-nc-sa/3.0/us/ *
dc.subject deletion boundaries en_US
dc.subject deletion breakpoints en_US
dc.subject DMD gene en_US
dc.subject Duchenne and Becker muscular dystrophies en_US
dc.subject hemizygous deletions en_US
dc.subject heterozygous deletions en_US
dc.title Fast detection of deletion breakpoints using quantitative PCR en_US
dc.type Article en_US
workflow.import.source science

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