Mutation analysis of presenilin 1 gene in a Chinese family affected with early-onset familial Alzheimer's disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 324-327, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-247681
ABSTRACT
<p><b>OBJECTIVE</b>To explore the clinical phenotype and genotype in a Chinese family affected with early-onset familial Alzheimer's disease (EOFAD).</p><p><b>METHODS</b>Potential mutation of beta-amyloid precursor protein (APP) gene, presenilin 1 (PSEN1) gene and apolipoprotein E (APOE) gene was detected with polymerase chain reaction (PCR) and direct sequencing.</p><p><b>RESULTS</b>Homozygous APOE ε 2 allele and no gene mutation of APP gene were detected in the proband (III1). A 488A>G mutation (His163Arg) of the PSEN1 gene was found in the proband and other 4 family members (IV1, IV12, IV21, V2).</p><p><b>CONCLUSION</b>A mutation (c.488A>G, p.His163Arg) of PSEN1 gene was found in a Chinese family affected with EOFAD.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Idade de Início
/
Presenilina-1
/
Doença de Alzheimer
/
Genética
/
Mutação
Limite:
Adulto
/
Idoso
/
Criança
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Artigo
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