A dementing illness associated with a novel insertion in the prion protein gene.
Following our previous report of an 144-bp insertion in the open reading frame of the prion protein (PrP) gene, we have now identified a larger, 216-bp, insertion in the gene. The insertion which is in frame encodes 9 extra octapeptide repeat sequences in addition to the 5 repeats normally present and represents the largest insertion so far detected in the PrP gene.
Department of Physiological Sciences, University of Manchester, U.K.
F
F
Owen
M
M
Poulter
J
J
Collinge
M
M
Leach
R
R
Lofthouse
T J
TJ
Crow
A E
AE
Harding
D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000473:pathology; D004251:DNA Transposable Elements; D005260:Female; D005814:Genes, Viral; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009838:Oligodeoxyribonucleotides; D016366:Open Reading Frames; D016133:Polymerase Chain Reaction; D018620:PrPSc Proteins; D011328:Prions / Q000235:genetics*
D003062:Codon; D004251:DNA Transposable Elements; D009838:Oligodeoxyribonucleotides; D018620:PrPSc Proteins; D011328:Prions