Codon 178 mutation of the human prion protein gene in a German family (Backer family): sequencing data from 72-year-old celloidin-embedded brain tissue.
Familial Creutzfeldt-Jakob disease was first described in a family from northern Germany in the 1920s (Backer family). PCR amplification of DNA extracted from brain tissue embedded in celloidin 72 years ago shows a GAC to AAC substitution at codon 178 of the prion protein gene. This mutation is associated with fatal familial insomnia and familial Creutzfeldt-Jakob disease in a number of families of diverse ethnic background.
Kretzschmar
H A
HA
Department of Neuropathology, University of Göttingen, Germany.
Neumann
M
M
Stavrou
D
D
D000368:Aged; D001483:Base Sequence; D001921:Brain / Q000648:ultrastructure*; D003062:Codon / Q000235:genetics*; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics*; D015342:DNA Probes; D005190:Family; D005858:Germany; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D011328:Prions / Q000235:genetics*; D017422:Sequence Analysis, DNA
D003062:Codon; D015342:DNA Probes; D011328:Prions