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 subacut e spongiform transmissible encephalopathies (SSTE). Furthermore, the p rimary sequence of the PrP gene (PRNP) seems to contain some genetic d eterminants of great importance in the development of SSTE. Here we pr esent a simple and rapid polymerase chain reaction (PCR)-based method for direct sequencing of the entire coding sequence of the PrP gene, P RNP, in patients. The ability to determine sequences of both alleles o f the PRNP gene is demonstrated in the analysis of 3 patients previous ly established as codon 129 heterozygotes by the use allele-specific o ligonucleotide hybridization method.