Codon 219 Lys allele of PRNP is not found in sporadic Creutzfeldt-Jakob disease.
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.
Shibuya
S
S
Department of Neurological Science, Tohoku University School of Medicine, Sendai, Japan.
Higuchi
J
J
Shin
R W
RW
Tateishi
J
J
Kitamoto
T
T
D000409:Alanine; D000483:Alleles; D007562:Creutzfeldt-Jakob Syndrome / Q000209:etiology / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D008239:Lysine; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011328:Prions / Q000235:genetics*
D011328:Prions; D008239:Lysine; D000409:Alanine