Detecting prion protein gene mutations by denaturing gradient gel electrophoresis.


Journal Article

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 (FFI). 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.

Full Text

Cited Authors

  • Fink, JK; Peacock, ML; Warren, JT; Roses, AD; Prusiner, SB

Published Date

  • January 1, 1994

Published In

Volume / Issue

  • 4 / 1

Start / End Page

  • 42 - 50

PubMed ID

  • 7951257

Pubmed Central ID

  • 7951257

Electronic International Standard Serial Number (EISSN)

  • 1098-1004

International Standard Serial Number (ISSN)

  • 1059-7794

Digital Object Identifier (DOI)

  • 10.1002/humu.1380040106


  • eng