A novel blocker-PCR method for detection of rare mutant alleles in the presence of an excess amount of normal DNA

Nucleic Acids Res. 1992 May 25;20(10):2493-6. doi: 10.1093/nar/20.10.2493.

Abstract

A novel polymerase chain reaction method was developed to preferentially amplify a segment of DNA containing a base substitution mutation. This technique uses a pair of dideoxynucleotide-labeled oligonucleotides (18 mers) of normal sequences as blockers located between the two primers. By virtue of a subtle difference in the melting temperature between the blocker-normal DNA and blocker-mutant DNA hybrids, the method allows preferential amplification of the mutant DNA. We used the human N-ras gene as a model. Two different types of N-ras mutations could be effectively amplified when they were present with an excess amount of normal DNA at a ratio of 1:10(3). Furthermore, the sensitivity was increased 10-fold by using single strand conformation polymorphism analysis for the amplified products, and mutant DNA was detected in the presence of a 10(4) times excess amount of normal DNA.

MeSH terms

  • Alleles
  • Base Sequence
  • DNA, Single-Stranded / genetics
  • Genes, ras / genetics
  • Humans
  • Molecular Sequence Data
  • Mutation / genetics*
  • Nucleic Acid Conformation
  • Oligodeoxyribonucleotides / genetics*
  • Polymerase Chain Reaction / methods*
  • Polymorphism, Genetic / genetics
  • Sensitivity and Specificity
  • Temperature

Substances

  • DNA, Single-Stranded
  • Oligodeoxyribonucleotides