A simple and rapid method for sequencing the entire coding region of the human prion protein (PrP) gene.

The accumulation in brain of the 'prion protein' (PrP), a host-encoded sialoglycoprotein, is the unique specific molecular marker of subacute spongiform transmissible encephalopathies (SSTE). Furthermore, the primary sequence of the PrP gene (PRNP) seems to contain some genetic determinants of great importance in the development of SSTE. Here we present a simple and rapid polymerase chain reaction (PCR)-based method for direct sequencing of the entire coding sequence of the PrP gene, PRNP, in patients. The ability to determine sequences of both alleles of the PRNP gene is demonstrated in the analysis of 3 patients previously established as codon 129 heterozygotes by the use allele-specific oligonucleotide hybridization method.