title: Codon 219 Lys allele of PRNP is not found in sporadic Creutzfeldt-Jakob disease.
abstract: 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.
authors.affiliation: Department of Neurological Science, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Shibuya
authors.forename: J
authors.initials: J
authors.lastname: Higuchi
authors.forename: R W
authors.initials: RW
authors.lastname: Shin
authors.forename: J
authors.initials: J
authors.lastname: Tateishi
authors.forename: T
authors.initials: T
authors.lastname: Kitamoto
mesh_terms: 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*
chemical_list: D011328:Prions; D008239:Lysine; D000409:Alanine