NR ATNB
AU Dyrbye,H.; Broholm,H.; Dziegiel,M.H.; Laursen,H.
TI The Danish distribution of the codon-129 polymorphism in the PRNP-gene
QU International Conference - Prion 2005: Between fundamentals and society's needs - 19.10.-21.10.2005, Congress Center Düsseldorf - Poster Session: Genetics, strains and emerging problems GEN-27
PT Konferenz-Poster
AB
Introduction: Both the prion protein (PrP) and the prion-gene (PRNP) have been subjects to intense studies since variant Creutzfeldt Jakob disease (vCJD) was described in 1996 for the first time. Several polymorphisms in PRNP may modify disease susceptibility and phenotype, but particularly the polymorphism at codon-129 has attracted attention. Two common variations of codon129 in PRNP code for methionine (Met) and valine (Val), respectively. All hitherto known cases of vCJD have been Met/Met homozygotes allthough this genotype is carried only by approximately 42 % of the population in the UK.
Aim: To investigate susceptibility to vCJD in the Danish population by determining the distribution of the codon 129 polymorphism.
Materials and methods: Blood samples from healthy blood donors were acquired according to age, gender and blood type distribution in the Danish population. DNA was isolated from 352 samples by use of Macherey-Nagel Nucleospin DNA purification kits. Samples were tested on an ABI Prism 7000 Q-PCR instrument. All cases were plotted in a cluster diagram and judged by visual inspection.
Results: The Danish population exhibits a distribution of the genotypes Met/Met, Met/Val and Val/Val similar to the British i.e. 35, 48 and 17 percent respectively; but differs from Finnish and Japanese counts, where the methionine allele is more abundant.
Comments: The results indicate that the Danish population is genetically susceptible to vCJD at approximately the same level as the British. In Finland and Japan the occurrence of the methionine allele may increase the susceptibility to vCJD.
AD H.Dyrbye, H.Broholm, H.Laursen, Lab. of Neuropathology, 6301, Rigshospitalet, Copenhagen; M.H.Dziegiel, HS Blodbank, KI2034, Rigshospitalet, Copenhagen
SP englisch
PO Deutschland