Fragile X screening by quantification of FMRP in dried blood spots by a Luminex immunoassay.
J Mol Diagn
; 15(4): 508-17, 2013 Jul.
Article
em En
| MEDLINE
| ID: mdl-23660422
ABSTRACT
Fragile X is the most common inherited cause of intellectual disability and is frequently associated with autism. The syndrome is due to mutations of the FMR1 gene that result in the absence of fragile X mental retardation protein (FMRP). We have developed a rapid, highly sensitive method for quantifying FMRP from dried blood spots and lymphocytes. This assay uses two new antibodies, a bacterially expressed abbreviated FMRP standard, and a Luminex platform to quantify FMRP. The assay readily distinguished between samples from males with fragile X full mutations and samples from normal males. It also differentiated mosaic from nonmosaic full-mutation male samples. This assay, because of its methodology and minimal cost, could be the basis for newborn or population screening.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Expansão das Repetições de Trinucleotídeos
/
Técnicas de Diagnóstico Molecular
/
Proteína do X Frágil da Deficiência Intelectual
/
Síndrome do Cromossomo X Frágil
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Limite:
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
J Mol Diagn
Assunto da revista:
BIOLOGIA MOLECULAR
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Estados Unidos