Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection

Genomics. 1998 Aug 15;52(1):44-9. doi: 10.1006/geno.1998.5411.


Denaturing high-performance liquid chromatography (DHPLC) is a novel high-capacity technique for detecting new mutations. We have evaluated the sensitivity and specificity of this method in a blind analysis of exon H of the factor IX gene and exon 16 of the neurofibromatosis type 1 gene. Under a single set of conditions for each exon, 55/55 individuals carrying 48 unique mutations were correctly identified as were 55/55 individuals with wildtype alleles. We conclude that DHPLC is a highly sensitive and specific method for mutation detection.

Publication types

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

MeSH terms

  • Chromatography, High Pressure Liquid / methods*
  • DNA Mutational Analysis / methods*
  • Exons / genetics
  • Factor IX / genetics
  • Genetic Carrier Screening / methods
  • Genetic Testing / methods
  • Humans
  • Nerve Tissue Proteins
  • Neurofibromin 1
  • Nucleic Acid Denaturation*
  • Proteins / genetics
  • Sensitivity and Specificity


  • Nerve Tissue Proteins
  • Neurofibromin 1
  • Proteins
  • Factor IX