Examination of the human prion protein-like gene Doppel for genetic susceptibility to sporadic and variant Creutzfeldt-Jakob disease

A novel human gene named Doppel (DPL) that has homology to the prion protei n gene (PRNP) has recently been identified on chromosome 20p. By automated sequencing we have found a common (M174T, 48%) and an uncommon coding polym orphism. The polymorphic frequency of the M174T allele was examined in case s of variant and sporadic Creutzfeldt-Jakob Disease and compared with the f requency in the normal UK population. In sharp distinction to the M129V pol ymorphism of PRNP we have not found any evidence of disease association nor is there any association with age of onset, disease duration, or prion pro tein (PrPSc) strain type. (C) 2000 Elsevier Science Ireland Ltd. AII rights reserved.