Detection of point mutations by solid-phase methods

Hum Mutat. 1994;3(3):172-9. doi: 10.1002/humu.1380030303.


Several techniques exist that permit the efficient distinction among characterized DNA sequence variants. In this review we discuss a number of such analytic procedures. These techniques all take advantage of a variety solid supports to prepare and analyze reaction products. The described diagnostic principles are now being applied for the development of miniaturized assay formats, suitable for automated detection of large sets of sequences in clinical samples.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Base Sequence*
  • DNA / chemistry
  • DNA / genetics*
  • Genetic Techniques*
  • Humans
  • Models, Structural
  • Oligonucleotide Probes
  • Point Mutation*
  • Polymerase Chain Reaction / methods


  • Oligonucleotide Probes
  • DNA