FMRP detection assay for the diagnosis of the fragile X syndrome

Fragile X syndrome is almost always caused by the absence or deficit of the FMR1 protein (FMRP). Diagnostic methods include polymerase chain reaction and Southern blotting, which are performed on DNA isolated from peripheral leukocytes. Recently, different immunocytochemical tests have been describe d to identify patients with fragile X syndrome, based on the detection of F MRP in cells by a monoclonal antibody. This review aims to provide an updat e on the different antibody methods for prenatal and postnatal diagnosis of the fragile X syndrome. Am. J. Med. Genet. (Semin. Med. Genet.) 97:183-188 , 2000. (C) 2000 Wiley-Liss, Inc.