title: Fragile X screening by quantification of FMRP in dried blood spots by a Luminex immunoassay.
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.
authors: Department of Developmental Biochemistry, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA. giuseppe.x.lafauci@opwdd.ny.gov
authors: Giuseppe
authors: G
authors: LaFauci
authors: Tatyana
authors: T
authors: Adayev
authors: Richard
authors: R
authors: Kascsak
authors: Regina
authors: R
authors: Kascsak
authors: Sarah
authors: S
authors: Nolin
authors: Pankaj
authors: P
authors: Mehta
authors: W Ted
authors: WT
authors: Brown
authors: Carl
authors: C
authors: Dobkin
mesh_terms: D059788:Dried Blood Spot Testing / Q000379:methods; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics* / Q000302:isolation & purification; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007118:Immunoassay; D007231:Infant, Newborn; D008214:Lymphocytes / Q000378:metabolism / Q000473:pathology; D008297:Male; D025202:Molecular Diagnostic Techniques; D009154:Mutation; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human