title: FMR1 protein expression in blood smears for fragile X syndrome diagnosis in a Mexican population sample.
abstract: Molecular diagnosis of fragile X syndrome (FXS) is carried out by Southern blot or polymerase chain reaction-Southern analysis; however, these procedures are expensive and time consuming, making it impractical for mass screening programs. Willemsen et al. developed and tested the diagnostic potential of a rapid antibody test on blood smears, based on the presence of fragile X mental retardation protein (FMRP) in peripheral lymphocytes from normal individuals and its absence in male patients with FXS. The diagnostic power of this antibody test is perfect for men, whereas the results are less specific for women. Validation of this procedure has been achieved mainly in the Caucasian population, but no reports including Latin American individuals have been published. To test this procedure, expression of FMRP in peripheral lymphocytes was achieved both in Mexican FXS patients and normal men and was compared with the molecular analysis of the CGG repetitive sequences of the FMR1 gene. The results of the antibody test, which measure the FMRP expression, entirely correlated with the molecular tests using polymerase chain reaction on DNA modified. Sensitivity and specificity of the test and the positive and negative predictive values were 100%. This noninvasive test requires one or two blood drops; it is rapid, simple, and inexpensive, making this procedure an ideal choice for screening large groups of male patients with mental retardation.
authors.affiliation: División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
authors.forename: Pavel
authors.initials: P
authors.lastname: Romero-Espinoza
authors.forename: Mónica A
authors.initials: MA
authors.lastname: Rosales-Reynoso
authors.forename: Rob
authors.initials: R
authors.lastname: Willemsen
authors.forename: Patricio
authors.initials: P
authors.lastname: Barros-Núñez
mesh_terms: D001800:Blood Specimen Collection / Q000379:methods; D016022:Case-Control Studies; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics / Q000378:metabolism*; D005600:Fragile X Syndrome / Q000097:blood* / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D015870:Gene Expression; D005828:Genetics, Population; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D008297:Male; D008800:Mexico; D025202:Molecular Diagnostic Techniques / Q000379:methods; D011237:Predictive Value of Tests; D012680:Sensitivity and Specificity
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human