SSCP analysis: a blind sensitivity trial

Hum Mutat. 1997;10(1):65-70. doi: 10.1002/(SICI)1098-1004(1997)10:1<65::AID-HUMU9>3.0.CO;2-L.


Studies of the sensitivity of SSCP analysis usually have been performed under conditions contrary to the rules of quality control trials and have produced widely different results. We have performed a blind trial of the sensitivity of SSCP analysis for the detection of mutations in fragments up to 500 bp in length under a fixed single set of electrophoretic conditions. The mutation detection rate was 84%. In addition, we have identified a second mutation in nine samples. All these mutations are polymorphisms, including a novel polymorphism 1248 + 52T/C first reported in the present work.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • DNA / analysis
  • DNA Mutational Analysis / methods*
  • Electrophoresis, Polyacrylamide Gel
  • Evaluation Studies as Topic
  • Humans
  • Mutation
  • Polymorphism, Genetic
  • Polymorphism, Single-Stranded Conformational*
  • Sensitivity and Specificity
  • Sequence Analysis, DNA


  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA