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Detecting prion protein gene mutations by denaturing gradient gel electrophoresis

✍ Scribed by John K. Fink; Michael L. Peacock; James T. Warren Jr.; Allen D. Roses; Stanley B. Prusiner

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 844 KB
Volume: 4
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380040106

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✦ Synopsis

Mutations of the prion protein (PrP) gene are present in patients with Gerstmann-Straussler-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. o 1994 Wiley-Liss, Inc.

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