Consulta: creatorFacets:"Abildinova,Gulshara"
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Data/hora: 12/06/2024 12:42:47

Fast detection of deletion breakpoints using quantitative PCR
Provedor de dados: 74
Autores: Abildinova,Gulshara; Abdrakhmanova,Zhanara; Tuchinsky,Helena; Nesher,Elimelech; Pinhasov,Albert; Raskin,Leon.
Abstract The routine detection of large and medium copy number variants (CNVs) is well established. Hemizygotic deletions or duplications in the large Duchenne muscular dystrophy DMD 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...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Deletion boundaries; Deletion breakpoints; DMD gene; Duchenne and Becker muscular dystrophies; Hemizygous deletions; Heterozygous deletions.
Ano: 2016
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000300365