Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene

Genomics. 1992 Jun;13(2):389-94. doi: 10.1016/0888-7543(92)90258-t.


We tested the use of a modified method of single-strand conformational polymorphism (SSCP) analysis for the detection of point mutations in the human ornithine-delta-aminotransferase gene. Using a combination of three different electrophoretic conditions, we detected 20/20 known mutations. In a prospective study of 24 previously uncharacterized mutant OAT genes, we found 13 different mutations accounting for 19 (79%) of the 24. We conclude that SSCP is an efficient technique with high sensitivity and specificity.

Publication types

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

MeSH terms

  • Base Sequence
  • DNA Mutational Analysis*
  • DNA, Single-Stranded / ultrastructure
  • Electrophoresis, Polyacrylamide Gel
  • Exons
  • Genes
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Nucleic Acid Conformation
  • Nucleic Acid Denaturation
  • Ornithine-Oxo-Acid Transaminase / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Prospective Studies
  • Sensitivity and Specificity


  • DNA, Single-Stranded
  • Ornithine-Oxo-Acid Transaminase