A deletion in the prion protein gene in a japanese family

Abstract

A 24-bp deletion between codons 54-76 in the prion protein gene was found in a Japanese family having a variant of Gerstmann-Stréiussler-Scheinker disease (GSS) associated with a missense mutation at the codon 105. Our results have indicated that the deletion is a rare non-pathogenic polymorphism that is present in Japanese individuals beyond ethnic background. In a family member, thedeletion coexisted with the pathogenic codon 105 mutation. The coexistence of the deletion may possibly influence the disease phenotype of the GSS. © 1994, Biomedical Research Press. All rights reserved.