Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
1993-11-12
pubmed:abstractText
We screened 16 cases of sporadic Creutzfeldt-Jakob disease (CJD) and 28 healthy control subjects to detect possible polymorphisms in their prion protein gene (PRNP). The molecular analysis of the PRNP coding sequence was performed using denaturing gradient gel electrophoresis of polymerase chain reaction products and direct sequencing. We identified (1) a silent mutation at codon 177 in a healthy individual, (2) a codon 200 glutamate-to-lysine substitution in a 48-year-old CJD-affected Libyan Jew, and (3) a G-to-A point substitution at codon 210, leading a valine-to-isoleucine change, in a 63-year-old French CJD patient. This new mutation occurs in a highly conserved part of the PRNP coding sequence, close to the known CJD-associated codon 200 mutation, and might be linked to a symptomatologic and neuropathologic pattern of typical sporadic CJD. This mutation was also present in a sister of the patient who died at the age of 67 without neurologic symptomatology.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0028-3878
pubmed:author
pubmed:issnType
Print
pubmed:volume
43
pubmed:geneSymbol
PRNP
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1934-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:8105421-Aged, pubmed-meshheading:8105421-Aged, 80 and over, pubmed-meshheading:8105421-Amino Acid Sequence, pubmed-meshheading:8105421-Base Sequence, pubmed-meshheading:8105421-Brain, pubmed-meshheading:8105421-Codon, pubmed-meshheading:8105421-Creutzfeldt-Jakob Syndrome, pubmed-meshheading:8105421-DNA, pubmed-meshheading:8105421-DNA Primers, pubmed-meshheading:8105421-Humans, pubmed-meshheading:8105421-Isoleucine, pubmed-meshheading:8105421-Middle Aged, pubmed-meshheading:8105421-Molecular Sequence Data, pubmed-meshheading:8105421-Nerve Tissue Proteins, pubmed-meshheading:8105421-Oligonucleotide Probes, pubmed-meshheading:8105421-Point Mutation, pubmed-meshheading:8105421-Polymerase Chain Reaction, pubmed-meshheading:8105421-Polymorphism, Genetic, pubmed-meshheading:8105421-PrPSc Proteins, pubmed-meshheading:8105421-Prions, pubmed-meshheading:8105421-Reference Values, pubmed-meshheading:8105421-Valine
pubmed:year
1993
pubmed:articleTitle
A new point mutation in the prion protein gene at codon 210 in Creutzfeldt-Jakob disease.
pubmed:affiliation
Service de Biochimie, Hôpital Saint-Louis, Paris, France.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't