A DELETION IN THE PRION PROTEIN GENE IN A JAPANESE FAMILY

A 24-bp deletion between codons 54-76 in the prion protein gene was fo und in a Japanese family having a variant of Gerstmann-Straussler-Sche inker disease (GSS) associated with a missense mutation at the codon 1 05. Our results have indicated that the deletion is a rare non-pathoge nic polymorphism that is present in Japanese individuals beyond ethnic background. In a family member, the deletion coexisted with the patho genic codon 105 mutation. The coexistence of the deletion may possibly influence the disease phenotype of the GSS.