Quantitative approach to single-nucleotide polymorphism analysis using MALDI-TOF mass spectrometry

Biotechniques. 2000 Sep;29(3):620-6, 628-9. doi: 10.2144/00293rr05.

Abstract

Pooling of DNA samples before genotyping is a valuable means of streamlining large-scale genotyping efforts in disease association studies, single-nucleotide polymorphism (SNP) validation or mutant allele screening programs. In this report, we explore the application of matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) to quantitative analysis of SNPs. The measurements are based on MALDI-TOF MS analysis of primer extension assays performed on standard mixtures of pooled PCR products at several test loci. The inherent high molecular weight resolution of MALDI-TOF MS conveys high specificity and good signal-to-noise ratio for performing accurate quantitation. The methods described maximize the sensitivity and quantitative capacity of MALDI-TOF MS while preserving the throughput and economic advantages of the MALDI-TOF platform. Using the format described, we demonstrate that allele frequencies as low as 5% can be detected quantitatively and unambiguously.

MeSH terms

  • Alleles
  • Cytochrome P-450 Enzyme System / genetics
  • DNA / analysis
  • Fructose-Bisphosphate Aldolase / genetics
  • Gene Frequency
  • Genotype
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide* / genetics
  • Receptors, LDL / genetics
  • Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization*

Substances

  • Receptors, LDL
  • DNA
  • Cytochrome P-450 Enzyme System
  • Fructose-Bisphosphate Aldolase