NR AIFZ
AU Mead,S.; Beck,J.A.; Dickinson,A.; Fisher,E.M.C.; Collinge,J.
TI Examination of the human prion protein-like gene doppel for genetic susceptibility to sporadic and variant Creutzfeldt-Jakob disease
QU Neuroscience Letters 2000 Aug 25; 290(2): 117-20
PT journal article
AB A novel human gene named Doppel (DPL) that has homology to the prion protein gene (PRNP) has recently been identified on chromosome 20p. By automated sequencing we have found a common (M174T, 48%) and an uncommon coding polymorphism. The polymorphic frequency of the M174T allele was examined in cases of variant and sporadic Creutzfeldt-Jakob Disease and compared with the frequency in the normal UK population. In sharp distinction to the M129V polymorphism of PRNP we have not found any evidence of disease association nor is there any association with age of onset, disease duration, or prion protein (PrPsc) strain type.
MH Chromosomes, Human, Pair 20/genetics; Creutzfeldt-Jakob Syndrome/*genetics; Genetic Predisposition to Disease/*genetics; Human; Polymorphism (Genetics)/genetics; Prions/*genetics; Support, Non-U.S. Gov't
AD Simon Mead, Jonathan Beck, Andrew Dickinson, Elizabeth M.C. Fisher, John Collinge*, MRC Prion Unit and Department of Neurogenetics, Imperial College School of Medicine at St. Mary's, W2 1PG, London, UK
SP englisch
PO Irland