Early-onset Alzheimerʼs disease caused by a novel mutation at codon 219 of the presenilin-1 gene
| Autor: | C.L. Masters, Elsdon Storey, R. Cappal, R. J. M. Gardner, Margaret J. Smith, Melanie A. Knight, Richard G.H. Cotton, Catriona McLean, Susan M. Forrest, Konrad Beyreuther |
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| Rok vydání: | 1999 |
| Předmět: |
Male
Mutation rate animal diseases DNA Mutational Analysis Nonsense mutation Mutation Missense Biology Polymerase Chain Reaction Presenilin Frameshift mutation Alzheimer Disease mental disorders Presenilin-1 medicine Humans Missense mutation Early-onset Alzheimer's disease Age of Onset Codon Aged Suppressor mutation Genetics Genome General Neuroscience Membrane Proteins DNA Exons Middle Aged medicine.disease nervous system diseases Amino Acid Substitution nervous system Mutation (genetic algorithm) Female |
| Zdroj: | NeuroReport. 10:503-507 |
| ISSN: | 0959-4965 |
| Popis: | Mutations in the presenilin 1 (PS1) gene are responsible for approximately 50% of early onset autosomal-dominant Alzheimer's disease cases. A PCR based mutation detection method, chemical cleavage of mismatch, was used to detect a novel PS1 mutation in the coding sequence of the PS1 gene. Sequencing confirmed a T to C transition altering a leucine to proline at codon 219 of the PS1 gene. This is a novel mutation in exon 7 of the PS1 gene occurring outside the transmembrane regions of IV and V. |
| Databáze: | OpenAIRE |
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