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The normal population distribution of PRNP codon 129 polymorphism.

M H Nurmi¹, M Bishop, L Strain

¹Department of Pathology, University of Helsinki, Helsinki, Finland.

Acta Neurologica Scandinavica

|November 18, 2003

Summary

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The prion protein gene (PRNP) codon 129 polymorphism distribution is consistent across Finnish populations and genders. However, Finnish genotype frequencies significantly differ from British and Irish populations.

Area of Science:

Genetics
Neuroscience
Population Studies

Background:

The prion protein gene (PRNP) codon 129 polymorphism influences susceptibility and phenotype in prion diseases.
Representative population-based data on PRNP codon 129 genotype distribution, stratified by age and gender, is lacking.

Purpose of the Study:

To investigate the distribution of the PRNP codon 129 polymorphism in Finnish populations across different age groups.
To compare PRNP codon 129 genotype frequencies among Finnish, British, and Irish blood donors.

Main Methods:

Analysis of allelic variation at codon 129 of the PRNP gene.
Examination of three Finnish population groups representing different age strata.
Comparison with data from Finnish, British, and Irish blood donors.

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Main Results:

The PRNP codon 129 genotype distribution in the total Finnish sample was 49% MM, 42% MV, and 9% VV.
UK blood donors showed 42% MM, 47% MV, and 11% VV; Irish blood donors had 34% MM, 56% MV, and 10% VV.
Finnish genotype frequencies were consistent across age groups and genders, and similar to Finnish blood donors.

Conclusions:

PRNP codon 129 genotype frequencies are uniform across Finnish age and gender groups.
Significant differences exist in PRNP codon 129 genotype distribution between Finland and the UK/Ireland.
Findings highlight potential population-specific variations in prion disease risk factors.