Creutzfeldt-Jakob disease cosegregates with the codon 178Asn PRNP mutation in families of European origin

Goldfarb, L. G., Brown, P., Haltia, M., Cathala, F., McCombie, W. R., Kovanen, J., Červeňáková, L., Goldin, L., Nieto, A., Godec, M. S., Asher, D. M., Gajdusek, D. C. (1992) Creutzfeldt-Jakob disease cosegregates with the codon 178Asn PRNP mutation in families of European origin. Annals of neurology, 31 (3). pp. 274-281. ISSN 03645134 (ISSN)

URL: http://www.ncbi.nlm.nih.gov/pubmed/1353341
DOI: 10.1002/ana.410310308

Abstract

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.

Item Type: Paper
Uncontrolled Keywords: amyloid protein restriction endonuclease article codon controlled study creutzfeldt jakob disease dna sequence familial disease gene amplification gene mutation gene segregation genetic linkage genetic screening human human cell human experiment pedigree polymerase chain reaction precursor priority journal western europe Adult Base Sequence Comparative Study Creutzfeldt-Jakob Syndrome DNA Mutational Analysis Europe Female Genes, Dominant Genes, Structural Genetic Predisposition to Disease Kuru Lod Score Male Molecular Sequence Data Mutation Polymorphism, Restriction Fragment Length Prions Protein Conformation Protein Precursors PrPC Proteins
Subjects: bioinformatics
bioinformatics > genomics and proteomics > analysis and processing > codon processing
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification
diseases & disorders
bioinformatics > genomics and proteomics > genetics & nucleic acid processing
bioinformatics > genomics and proteomics
diseases & disorders > mental disorders > genetic disorders
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > mutations
CSHL Authors:
Communities: CSHL labs > McCombie lab
Depositing User: Matt Covey
Date Deposited: 25 Apr 2013 18:54
Last Modified: 25 Apr 2013 18:54
Related URLs:
URI: http://repository.cshl.edu/id/eprint/28205

Actions (login required)

Administrator's edit/view item Administrator's edit/view item
CSHL HomeAbout CSHLResearchEducationNews & FeaturesCampus & Public EventsCareersGiving