NR ANAE
AU Zimmermann,K.; Turecek,P.L.; Schwarz,H.P.
TI Genotyping of the prion protein gene at codon 129
QU Acta Neuropathologica 1999 Apr; 97(4): 355-8
PT journal article
AB 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.
MH Caucasoid Race/genetics; Codon/genetics; Cohort Studies; Comparative Study; Gene Frequency; Genetic Screening; Genotype; Human; Polymerase Chain Reaction; Polymorphism (Genetics)/genetics; Prions/*genetics; *Restriction Mapping
AD Hyland-Immuno Division, Baxter Healthcare, Vienna, Austria.
SP englisch
PO Deutschland