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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
1992-8-25
|
| pubmed:abstractText |
We recently discovered an amino acid-altering heterozygous mutation in codon 178 of the PRNP amyloid precursor gene in patients with familial Creutzfeldt-Jakob disease. This mutation is now shown to be associated with the occurrence of disease in 7 unrelated families of Western European origin, among which a total of 65 members are known to have died from Creutzfeldt-Jakob disease. The mutation was detected in each of 17 tested patients, including at least 1 affected member of each family, and in 16 of 36 of their first-degree relatives, but not in affected families with other mutations, patients with the nonfamilial form of the disease, or 83 healthy control individuals. Linkage analysis in two informative families yielded a lod score of 5.30, which, because no recombinants were found, strongly suggests that codon 178Asn is the actual disease mutation.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Mar
|
| pubmed:issn |
0364-5134
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
31
|
| pubmed:geneSymbol |
PRNP
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
N
|
| pubmed:pagination |
274-81
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:1353341-Adult,
pubmed-meshheading:1353341-Base Sequence,
pubmed-meshheading:1353341-Codon,
pubmed-meshheading:1353341-Creutzfeldt-Jakob Syndrome,
pubmed-meshheading:1353341-DNA Mutational Analysis,
pubmed-meshheading:1353341-Europe,
pubmed-meshheading:1353341-Female,
pubmed-meshheading:1353341-Genes,
pubmed-meshheading:1353341-Genes, Dominant,
pubmed-meshheading:1353341-Genetic Predisposition to Disease,
pubmed-meshheading:1353341-Humans,
pubmed-meshheading:1353341-Kuru,
pubmed-meshheading:1353341-Lod Score,
pubmed-meshheading:1353341-Male,
pubmed-meshheading:1353341-Molecular Sequence Data,
pubmed-meshheading:1353341-Mutation,
pubmed-meshheading:1353341-Pedigree,
pubmed-meshheading:1353341-Polymerase Chain Reaction,
pubmed-meshheading:1353341-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:1353341-PrPC Proteins,
pubmed-meshheading:1353341-Prions,
pubmed-meshheading:1353341-Protein Conformation,
pubmed-meshheading:1353341-Protein Precursors
|
| pubmed:year |
1992
|
| pubmed:articleTitle |
Creutzfeldt-Jakob disease cosegregates with the codon 178Asn PRNP mutation in families of European origin.
|
| pubmed:affiliation |
Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892.
|
| pubmed:publicationType |
Journal Article,
Comparative Study
|