Article
Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene.
Proceedings of the National Academy of Sciences of the United States of America - 1 Dec 1991
Goldfarb L G, Brown P, McCombie W R, Goldgaber D, Swergold G D, Wills P R, Cervenakova L, Baron H, Gibbs C J, Gajdusek D C
Abstract excerpt
The PRNP gene, encoding the amyloid precursor protein that is centrally involved in Creutzfeldt-Jakob disease (CJD), has an unstable region of five variant tandem octapeptide coding repeats between codons 51 and 91. We screened a total of 535 individuals for the presence of extra repeats in this region, including patients with sporadic and familial forms of spongiform encephalopathy, members of their families,...
Topics
- Adult
- Alleles
- Amino Acid Sequence
- Amyloid beta-Protein Precursor
- Animals
- Base Sequence
- Brain
- Cloning, Molecular
- Creutzfeldt-Jakob Syndrome
- Crossing Over, Genetic