Enhanced specificity of TPMT*2 genotyping using unidirectional wild-type and mutant allele-specific scorpion primers in a single tube

PLoS One. 2014 Apr 4;9(4):e91824. doi: 10.1371/journal.pone.0091824. eCollection 2014.

Abstract

Genotyping of thiopurine S-methyltransferase (TPMT) is recommended for predicting the adverse drug response of thiopurines. In the current study, a novel version of allele-specific PCR (AS-PCR), termed competitive real-time fluorescent AS-PCR (CRAS-PCR) was developed to analyze the TPMT*2 genotype in ethnic Chinese. This technique simultaneously uses wild-type and mutant allele-specific scorpion primers in a single reaction. To determine the optimal conditions for both traditional AS-PCR and CRAS-PCR, we used the Taguchi method, an engineering optimization process that balances the concentrations of all components using an orthogonal array rather than a factorial array. Instead of running up to 264 experiments with the conventional factorial method, the Taguchi method achieved the same optimization using only 16 experiments. The optimized CRAS-PCR system completely avoided non-specific amplification occurring in traditional AS-PCR and could be performed at much more relaxed reaction conditions at 1% sensitivity, similar to traditional AS-PCR. TPMT*2 genotyping of 240 clinical samples was consistent with published data. In conclusion, CRAS-PCR is a novel and robust genotyping method, and the Taguchi method is an effective tool for the optimization of molecular analysis techniques.

Publication types

  • Comparative Study
  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Base Sequence
  • DNA Mutational Analysis / methods
  • DNA Mutational Analysis / standards
  • DNA Primers / genetics*
  • Genotype
  • Genotyping Techniques / methods*
  • Genotyping Techniques / standards
  • Humans
  • Methyltransferases / genetics*
  • Oligonucleotides / chemistry
  • Oligonucleotides / genetics
  • Polymorphism, Single Nucleotide*
  • Quality Control
  • Real-Time Polymerase Chain Reaction / methods*
  • Real-Time Polymerase Chain Reaction / standards
  • Sensitivity and Specificity
  • Signal-To-Noise Ratio
  • Substrate Specificity

Substances

  • DNA Primers
  • Oligonucleotides
  • Methyltransferases
  • thiopurine methyltransferase

Grants and funding

This work was supported in part by the Transformation Foundation on Scientific and Technological Achievements of The Third Military Medical University [2012XZH03]; The Nature Scientific Foundation of China [31370853]; The National High Technology Research and Development Program of China [2011AA02A121 and 2013AA020204]; Preferential Foundations of Science; and Technology Activities for Students Study Abroad of Chongqing [YuLiuZhu201201]. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.