Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations

Mol Cell Probes. 1997 Aug;11(4):287-92. doi: 10.1006/mcpr.1997.0117.


We demonstrate the use of combined SSCP and heteroduplex analysis in the detection of PAX6 mutations using non-radioactive silver staining. A panel of aniridia patients was screened by this approach and we show that a greater number of mutations was detected than would have been found by running each technique alone. Six previously unreported aniridia mutations in PAX6 are also described..

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aniridia / genetics
  • DNA-Binding Proteins / genetics*
  • Eye Proteins
  • Female
  • Homeodomain Proteins*
  • Humans
  • Male
  • Mutation*
  • Nucleic Acid Heteroduplexes*
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors
  • Pedigree
  • Polymorphism, Single-Stranded Conformational*
  • Repressor Proteins


  • DNA-Binding Proteins
  • Eye Proteins
  • Homeodomain Proteins
  • Nucleic Acid Heteroduplexes
  • PAX6 Transcription Factor
  • PAX6 protein, human
  • Paired Box Transcription Factors
  • Repressor Proteins