Genotyping of the prion protein gene at codon 129.
Sporadic, iatrogenic and new variant forms of Creutzfeldt-Jakob disease are associated with a predisposition for disease depending on a homozygosity at amino acid residue 129 of the prion protein gene (PRNP). A novel polymerase chain reaction/restriction digestion assay to screen for this polymorphism was developed and proved after comparison with a previously used method to be advantageous. Furthermore, for prevention of incorrect results an internal control for the restriction digestion was constructed. The feasibility of this method was tested in a cohort of 300 healthy Caucasian subjects. Of this normal population, 48.7% were heterozygous at codon 129, 43% homozygous for methionine and 8.3% for valine.
Zimmermann
K
K
Hyland-Immuno Division, Baxter Healthcare, Vienna, Austria.
Turecek
P L
PL
Schwarz
H P
HP
D003062:Codon / Q000235:genetics; D015331:Cohort Studies; D005787:Gene Frequency; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D011328:Prions / Q000235:genetics*; D015183:Restriction Mapping; D044465:White People / Q000235:genetics
D003062:Codon; D011328:Prions