Patent · US Active

DNA mutation detection employing enrichment of mutant polynucleotide sequences and minimally invasive sampling

US11208689B2 · kind B2 · utility

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12Claims
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Key dates

Filing dateJul 12, 2019
Grant dateDec 28, 2021
Priority date
Expiry dateJul 12, 2039

Classification

  • Technology area (CPC C)Chemistry; Metallurgy
  • CPC primaryC12Q2531/113
  • WIPO fieldBiotechnology
  • WIPO sectorChemistry

Abstract

The invention relates to a method for enriching a target polynucleotide sequence containing a genetic variation said method comprising: (a) providing two primers targeted to said target polynucleotide sequence; (b) providing a target specific xenonucleic acid clamp oligomer specific for a wildtype polynucleotide sequence; (c) generating multiple amplicons using PCR under specific temperature cycling conditions; and (d) detecting said amplicons. We introduce a novel molecule, Xenonucleic Acid (XNA) for the NGS library preparation. XNA is able to selectively suppress amplification of DNA with wild type alleles and amplify DNA containing mutant alleles. Mutants with low allelic frequency will be easily detectable without deep sequencing after enrichment by adding XNA in multiplex PCR. The 17 actionable mutants related to lung or colorectal cancer diseases at different variant allelic frequency (VAF) % were investigated. Clinical sensitivity is significantly improved with XNA in various types of samples.

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