NR APKM
AU Nurmi,M.H.; Bishop,M.T.; Strain,L.; Brett,F.M.; McGuigan,C.; Hutchison,M.; Farrell,M.A.; Tilvis,R.; Erkkila,S.; Simell,O.; Knight,R.S.G.; Haltia,M.
TI The normal population distribution of PRNP codon 129 polymorphism
QU Acta Neurologica Scandinavica 2003 Nov; 108(5): 374-8
PT journal article
AB OBJECTIVES: 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. MATERIAL AND 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.
MH Adolescent; Adult; Aged; Amyloid/*genetics; Codon; Female; Finland; Great Britain; Human; Infant, Newborn; Ireland; Male; Middle Aged; *Polymorphism (Genetics); Prospective Studies; Protein Precursors/*genetics; Reference Values
AD M.H.Nurmi, M.Haltia, Department of Pathology, University of Helsinki, Helsinki, Finland; M.Bishop, R.Knight, CJD Surveillance Unit, Western General Hospital, Edinburgh, UK; L.Strain, Institute of Human Genetics, The International Centre for Life, Central Parkway, Newcastle upon Tyne, UK; F.Brett, C.McGuigan, M.Hutchison, M.Farrell, Department of Clinical Neurological Sciences, Royal College of Surgeons, Beaumont Hospital, Dublin, Ireland; R.Tilvis, Department of Medicine, Geriatric Clinic, Helsinki University Central Hospital, Helsinki, Finland; S.Erkkilä, O.Simell, Department of Paediatrics, University of Turku, Turku, Finland; Correspondence: Matti Haltia MD, PhD, Department of Pathology, University of Helsinki, PO Box 21, FIN-00014, Helsinki, Finland, Tel.: ++358 9 19126337, Fax: ++358 9 19126700, e-mail: matti.j.haltia@helsinki.fi
SP englisch
PO Dänemark