NR ABNM
AU Bosque,P.J.; Vnencak-Jones,C.L.; Johnson,M.D.; Whitlock,J.A.; McLean,M.J.
TI A PrP gene codon 178 base substitution and a 24-bp interstitial deletion in familial Creutzfeldt-Jakob disease
QU Neurology 1992 Oct; 42(10): 1864-70
PT journal article
AB Several mutations in the prion protein (PrP) gene are associated with familial Creutzfeldt-Jakob disease (FCJD). We describe a family in which five members in three generations have had FCJD. The proband and some descendants of the affected members carried an abnormal PrP gene allele. This allele contained a 24-bp deletion from the tandem repeat region of the open reading frame and a codon 178 missense substitution. Observations suggest that the codon 178 mutation is involved in the pathogenesis of FCJD in the family described here. The 24-bp deletion may be an uncommon polymorphism.
MH Adult; Alleles; Base Sequence; Brain/pathology; *Codon; Creutzfeldt-Jakob Syndrome/*genetics/metabolism/pathology; *Gene Deletion; *Gene Rearrangement; *Genes; Human; Male; Middle Age; Molecular Sequence Data; Nerve Tissue Proteins/genetics; Pedigree; Polymerase Chain Reaction; PrPsc Proteins; Prions/*genetics; Reading Frames
AD Department of Neurology, Vanderbilt University Medical Center, Nashville, TN.
SP englisch
PO USA