Rapid typing of the codon 129 polymorphism of the human prion protein gene by combined real-time PCR and melting curve analysis

摘要

Homozygosity of methionine(m/m)at amino acid residue 129(codon 129)of the human prion protein(PrP)has been reported for all so far analyzed cases of the new variant Creutzfeldt-Jakob disease(vCJD). This contrasts with its general distribution in the healthy Caucasian population of only about 43/100. For this reason a predisposition for carriers of the corresponding genotye to develop vCJD after infection with the bovine spongiform encephalopathy (BSE)agent is assumed, and PCR based methods such as allele-specific oligonucleotide hybridization or restriction analysis and sequencing have been developed for codon 129 genotyping.