NR ASFX
AU Yamada,M.; Itoh,Y.; Fujigasaki,H.; Naruse,S.; Kaneko,K.; Otomo,E.; Miyatake,T.
TI A Deletion in the Prion Protein Gene in a Japanese Family
QU Biomedical Research 1994 Apr; 15(2): 131-133
AB A 24-bp deletion between codons 54-76 in the prion protein gene was found in a Japanese family having a variant of Gerstmann-Sträussler-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, the deletion coexisted with the pathogenic codon 105 mutation. The coexistence of the deletion may possibly influence the disease phenotype of the GSS.
AD M Yamada, Tokyo Med & Dent Univ, Dept Neurol, Bunkyo Ku, Tokyo 113, Japan
SP englisch