A novel multiplex tetra-primer ARMS-PCR for the simultaneous genotyping of six single nucleotide polymorphisms associated with female cancers

PLoS One. 2013 Apr 17;8(4):e62126. doi: 10.1371/journal.pone.0062126. Print 2013.

Abstract

Background: The tetra-primer amplification refractory mutation system PCR (T-ARMS-PCR) is a fast and economical means of assaying SNP's, requiring only PCR amplification and subsequent electrophoresis for the determination of genotypes. To improve the throughput and efficiency of T-ARMS-PCR, we combined T-ARMS-PCR with a chimeric primer-based temperature switch PCR (TSP) strategy, and used capillary electrophoresis (CE) for amplicon separation and identification. We assessed this process in the simultaneous genotyping of four breast cancer-and two cervical cancer risk-related SNPs.

Methods: A total of 24 T-ARMS-PCR primers, each 5'-tagged with a universal sequence and a pair of universal primers, were pooled together to amplify the 12 target alleles of 6 SNPs in 186 control female blood samples. Direct sequencing of all samples was also performed to assess the accuracy of this method.

Results: Of the 186 samples, as many as 11 amplicons can be produced in one single PCR and separated by CE. Genotyping results of the multiplex T-ARMS-PCR were in complete agreement with direct sequencing of all samples.

Conclusions: This novel multiplex T-ARMS-PCR method is the first reported method allowing one to genotype six SNPs in a single reaction with no post-PCR treatment other than electrophoresis. This method is reliable, fast, and easy to perform.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA Mutational Analysis
  • DNA Primers / metabolism*
  • Electrophoresis, Agar Gel
  • Female
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease*
  • Genotype
  • Genotyping Techniques / methods*
  • Humans
  • Molecular Sequence Data
  • Multiplex Polymerase Chain Reaction / methods*
  • Mutation / genetics*
  • Neoplasms / genetics*
  • Polymorphism, Single Nucleotide / genetics*

Substances

  • DNA Primers

Grants and funding

This work was supported by the China Mega-Project for Infectious Disease (2011ZX10004-001, 2012ZX10004-215 and 2013ZX10004-202). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.