Study of mutations of presenilin 1 gene in early-onset familial Alzheimers disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 298-301, 2014.
Artigo
em Chinês
| WPRIM
| ID: wpr-254462
ABSTRACT
<p><b>OBJECTIVE</b>Mutations of presenilin 1 (PSEN1) gene are the most frequent cause for familial Alzheimers disease (AD). This study was set to explore potential mutation of PSEN1 gene in a Chinese family featuring early-onset Alzheimers disease (FAD).</p><p><b>METHODS</b>DNA was isolated from peripheral blood samples from 17 members of the FAD family as well as 10 patients with sporadic Alzheimers disease and 100 healthy subjects. With polymerase chain reaction (PCR) and Sanger sequencing, exons 113 of the PSEN1 gene were analyzed.</p><p><b>RESULTS</b>DNA sequencing has revealed a heterozygous point mutation from G to A at position 1133 (Gly378Glu) of exon 11 of PSEN1 gene in 6 members from the family, among whom 5 were patients with dementia, whilst the remaining 1 was clinically normal but under onset age. The same mutation was not found in all other patients and the normal controls.</p><p><b>CONCLUSION</b>A novel missense mutation of the PSEN1 gene, Gly378Glu, probably underlies the autosomal dominant early-onset FAD in this Chinese family.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Sequência de Bases
/
Diagnóstico
/
Presenilina-1
/
Doença de Alzheimer
/
Genética
Tipo de estudo:
Estudo diagnóstico
Limite:
Adulto
/
Idoso
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2014
Tipo de documento:
Artigo
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