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Polymorphism ratio sequencing: a new approach for single nucleotide polymorphism discovery and genotyping

Academic Article
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Overview

authors

  • Blazej, R. G.
  • Paegel, Brian
  • Mathies, R. A.

publication date

  • 2003

journal

  • Genome Research  Journal

abstract

  • Polymorphism ratio sequencing (PRS) combines the advantages of high-throughput DNA sequencing with new labeling and pooling schemes to produce a powerful assay for sensitive single nucleotide polymorphism (SNP) discovery, rapid genotyping, and accurate, multiplexed allele frequency determination. In the PRS method, dideoxy-terminator extension ladders generated from a sample and reference template are labeled with different energy-transfer fluorescent dyes and coinjected into a separation capillary for comparison of relative signal intensities. We demonstrate the PRS method by screening two human mitochondrial genomes for sequence variations using a microfabricated capillary array electrophoresis device. A titration of multiplexed DNA samples places the limit of minor allele frequency detection at 5%. PRS is a sensitive and robust polymorphism detection method for the analysis of individual or multiplexed samples that is compatible with any four-color fluorescence DNA sequencer.

subject areas

  • Codon
  • DNA, Mitochondrial
  • Genes, rRNA
  • Genetic Variation
  • Genome
  • Genotype
  • Humans
  • Mitochondria
  • Mitochondrial Proteins
  • Polymorphism, Genetic
  • Polymorphism, Single Nucleotide
  • RNA
  • RNA, Transfer
  • Sequence Analysis, DNA
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Identity

PubMed Central ID

  • PMC420372

International Standard Serial Number (ISSN)

  • 1088-9051

Digital Object Identifier (DOI)

  • 10.1101/gr.396203

PubMed ID

  • 12566407
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Additional Document Info

start page

  • 287

end page

  • 293

volume

  • 13

issue

  • 2

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