Genotyping using single nucleotide polymorphism, fluorescence spectroscopy and pattern recognition

Analyst. 2004 Mar;129(3):249-53. doi: 10.1039/b307176f. Epub 2004 Jan 22.

Abstract

This paper describes a method for genetic screening using single nucleotide polymorphism. Fluorescence spectra with an excitation frequency of 488 nm are recorded over a range of 550 to 660 nm of fragments of human DNA together with two fluorescent probe dyes attached to specific primers, one for each type of allele and a background dye, prepared using the Taqman reaction. The fluorescence spectra are monitored and principal components analysis used to separate spectra into three groups, which are visually identified as allele 1 (wild type), allele 2 (mutant) and mixed allele by comparison to reference samples. Malahanobis distance using 4 principal components are used to correctly classify samples into groups.

MeSH terms

  • DNA / analysis*
  • Genetic Testing / methods*
  • Genotype
  • Humans
  • Microscopy, Fluorescence
  • Pattern Recognition, Automated
  • Polymorphism, Single Nucleotide*

Substances

  • DNA