NR AKTS
AU Shibuya,S.; Higuchi,J.; Shin,R.W.; Tateishi,J.; Kitamoto,T.
TI Codon 219 Lys allele of PRNP is not found in sporadic Creutzfeldt-Jakob disease
QU Annals of Neurology 1998 Jun; 43(6): 826-8
PT journal article
AB The polymorphism at codon 219 of the prion protein gene (PRNP) was found in the general Japanese population with 6% allele frequency. Herein, we examined 85 cases of sporadic Creutzfeldt-Jakob disease (CJD) for the codon 219 polymorphism. The codon 219Glu/Lys heterozygous polymorphism was not found in these CJD cases. In addition, we examined 43 patients with dementia of non-CJD origin, and 4 were found to have the codon 219Glu/Lys heterozygous polymorphism with a similar allele frequency as in the general population. Thus, the codon 219Glu/Lys heterozygous polymorphism might be uniquely excluded from sporadic CJD.
MH Alanine; Alleles; Creutzfeldt-Jakob Syndrome/etiology/*genetics; DNA Mutational Analysis; Human; Lysine; *Point Mutation; *Polymorphism (Genetics); Prions/*genetics; Support, Non-U.S. Gov't
AD Department of Neurological Science, Tohoku University School of Medicine, Sendai, Japan.
SP englisch
PO USA