NR AOYN
AU Saetta,A.A.; Michapoulos,N.V.; Malamis,G.; Papanastasiou,P.I.; Patsouris,E.
TI Analysis of PRNP codon 129 gene polymorphism in the Greek population
QU International Conference - Prion diseases: from basic research to intervention concepts - TSE-Forum, 08.10.-10.10.2003, Gasteig, München - Poster session - DG-30
PT Konferenz-Poster
AB Creutzfeldt-Jakob disease (CJD) is a fatal transmissible neurodegenerative prion disease with a rapid progression comprising familial, sporadic, iatrogenic and variant forms. A polymorphism at codon 129 of PRNP gene has been implicated in the development of variant CJD. We examined Met/Val allele frequencies and the genotype distribution, with respect to the polymorphic codon 129 of PRNP gene in 373 healthy individuals from the region of Athens, Greece. The following genotype frequencies were observed in the Greek population: Met/Met 51%, Met/Val 38% and Val/Val 11%. The distribution of PRNP gene codon 129 allele frequencies in various European populations, according to the published data, increases gradually from northwestern to southestern countries, implying the presence of a cline. The distribution of genotypes of Met homozygotes displays random declination across the 7 different populations. The observed higher frequency of Met homozygotes at codon 129 does not necessarily suggest that these populations are at increased risk of developing CJD.
AD A.A. Saetta, N.V. Michapoulos, G. Malamis, P. Papanastasiou, E. Patsouris, University of Athens, Greece
SP englisch
PO Deutschland