The normal population distribution of PRNP codon 129 polymorphism.
OBJECTIVE
The common prion protein gene (PRNP) codon 129 polymorphism modifies the susceptibility to and the phenotype of prion diseases. However, no truly representative normal population-based data, or data stratified according to age or gender are available on the distribution of this polymorphism.


METHODS
Allelic variation of codon 129 in three Finnish populations representing different age groups, and among Finnish, British and Irish blood donors were examined.


RESULTS
The PRNP codon 129 genotype distribution in the total Finnish sample was 49% for methionine-methionine (MM), 42% for methionine-valine (MV) and 9% for valine-valine (VV), for the UK blood donors 42% for MM, 47% for MV and 11% for VV, and for the Irish blood donors 34% for MM, 56% for MV, and 10% for VV.


CONCLUSIONS
The genotype frequencies were almost identical in all three Finnish populations of different ages, with no gender differences, and did not differ from corresponding figures for the Finnish blood donors. However, the PRNP codon 129 genotype distribution in Finland differed significantly from that of the British and the Irish blood donors and the previously published blood donor data on other Western Europeans and Americans.
Nurmi
M H
MH
Department of Pathology, University of Helsinki, Helsinki, Finland.
Bishop
M
M
Strain
L
L
Brett
F
F
McGuigan
C
C
Hutchison
M
M
Farrell
M
M
Tilvis
R
R
Erkkilä
S
S
Simell
O
O
Knight
R
R
Haltia
M
M
D000293:Adolescent; D000328:Adult; D000368:Aged; D000682:Amyloid / Q000235:genetics*; D003062:Codon; D005260:Female; D005387:Finland; D006801:Humans; D007231:Infant, Newborn; D007494:Ireland; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D000072002:Prion Proteins; D011328:Prions; D011446:Prospective Studies; D011498:Protein Precursors / Q000235:genetics*; D012016:Reference Values; D006113:United Kingdom
D000682:Amyloid; D003062:Codon; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors