Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene
| العنوان: | Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene |
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| المؤلفون: | Dmitry Goldgaber, Patrick O. Brown, H. Baron, W. R. McCombie, Gary D. Swergold, C. J. Gibbs, Peter R. Wills, Larisa Cervenakova, Lev G. Goldfarb, D. C. Gajdusek |
| المصدر: | Scopus-Elsevier |
| بيانات النشر: | Proceedings of the National Academy of Sciences, 1991. |
| سنة النشر: | 1991 |
| مصطلحات موضوعية: | Adult, Male, Primates, Proband, PrPSc Proteins, Prions, Molecular Sequence Data, Biology, medicine.disease_cause, Polymerase Chain Reaction, Creutzfeldt-Jakob Syndrome, Amyloid beta-Protein Precursor, mental disorders, Gene duplication, medicine, Amyloid precursor protein, Animals, Humans, Amino Acid Sequence, Crossing Over, Genetic, Cloning, Molecular, Allele, Gene, Alleles, Repetitive Sequences, Nucleic Acid, Genetics, Mutation, Multidisciplinary, Base Sequence, Brain, Middle Aged, Virology, nervous system diseases, Phenotype, Oligodeoxyribonucleotides, Familial Creutzfeldt-Jakob, biology.protein, Female, Research Article |
| الوصف: | 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, other neurological and non-neurological patients, and normal controls. We identified three CJD families (in each of which the proband's disease was neuropathologically confirmed and experimentally transmitted to primates) that were heterozygous for alleles with 10, 12, or 13 repeats, some of which had "wobble" nucleotide substitutions. We also found one individual with 9 repeats and no nucleotide substitutions who had no evidence of neurological disease. These observations, together with data on published British patients with 11 and 14 repeats, strongly suggest that the occurrence of 10 or more octapeptide repeats in the encoded amyloid precursor protein predisposes to CJD. |
| تدمد: | 1091-6490 0027-8424 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27cbb19b4e187bd4dd5ce004cf31ae36Test https://doi.org/10.1073/pnas.88.23.10926Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....27cbb19b4e187bd4dd5ce004cf31ae36 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10916490 00278424 |
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