Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
Nature
; 375(6534): 754-60, 1995 Jun 29.
Article
em En
| MEDLINE
| ID: mdl-7596406
ABSTRACT
Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. Genetic linkage studies have mapped a locus (AD3) associated with susceptibility to a very aggressive form of Alzheimer's disease to chromosome 14q24.3. We have defined a minimal cosegregating region containing the AD3 gene, and isolated at least 19 different transcripts encoded within this region. One of these transcripts (S182) corresponds to a novel gene whose product is predicted to contain multiple transmembrane domains and resembles an integral membrane protein. Five different missense mutations have been found that cosegregate with early-onset familial Alzheimer's disease. Because these changes occurred in conserved domains of this gene, and are not present in normal controls, they are likely to be causative of AD3.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 14
/
Clonagem Molecular
/
Doença de Alzheimer
/
Proteínas de Membrana
/
Mutação
Limite:
Animals
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Nature
Ano de publicação:
1995
Tipo de documento:
Article
País de afiliação:
Canadá