Τίτλος:
Analysis of PRNP gene codon 129 polymorphism in the Greek population
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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
348 healthy individuals from the region of Athens, Greece. The following
genotype frequencies were observed in the Greek population: Met/Met
50%, Met/Val 39% and Val/Val 11%. The presence of the Methionine
allele frequencies in various European populations, according to the
published data, increases gradually from northwestern to southeastern
countries, implying the presence of a cline. The distribution of
genotypes of Met homozygotes displays random declination across the 10
compared 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.
Συγγραφείς:
Saetta, AA
Michalopoulos, NV
Malamis, G
Papanastasiou, PI
and Mazmanian, N
Karlou, M
Kouzoupis, A
Korkolopoulou, P and
Patsouris, E
Περιοδικό:
European Journal of Epidemiology
Λέξεις-κλειδιά:
CJD; PRNP gene polymorphism; codon 129; PCR
DOI:
10.1007/s10654-006-0012-z
