Codon 219 Lys allele of PRNP is not found in sporadic Creutzfeldt-Jakob disease

Ann Neurol. 1998 Jun;43(6):826-8. doi: 10.1002/ana.410430618.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alanine
  • Alleles
  • Creutzfeldt-Jakob Syndrome / etiology
  • Creutzfeldt-Jakob Syndrome / genetics*
  • DNA Mutational Analysis
  • Humans
  • Lysine
  • Point Mutation*
  • Polymorphism, Genetic*
  • Prions / genetics*

Substances

  • Prions
  • Lysine
  • Alanine