Detecting prion protein gene mutations by denaturing gradient gel electrophoresis

John K. Fink, Michael L. Peacock, James T. Warren, Allen D. Roses, Stanley B. Prusiner

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


Mutations of the prion protein (PrP) gene are present in patients with Gerstmann–Sträussler–Scheinker syndrome (GSS), familial Creutzfeldt–Jakob disease (CJD), and fatal familial insomnia (FF1). We developed a denaturing gradient gel electrophoresis (DGGE) strategy that readily identifies point mutations in the PrP coding sequence. By comparison with appropriate controls, haplotypes often may be deduced. This method permits samples from many patients with GSS, CJD, as well as patients with unusual degenerative neurologic disorders, to be screened rapidly, sensitively, and inexpensively for the presence of known and novel PrP mutations. We illustrate the sensitivity of this approach by reporting 2 novel polymorphisms in the PrP coding sequence. © 1994 Wiley‐Liss, Inc.

Original languageEnglish (US)
Pages (from-to)42-50
Number of pages9
JournalHuman mutation
Issue number1
StatePublished - 1994

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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