FMRP Expression In Children With Mental Retardation And Its Clinical Application

Objective: A simple, rapid method of FMR1 protein(FMRP) determination in the peripheral blood lymphocytes for fragile X syndrome(FXS) was applied to evaluate the clinical application of the simplified six-item clinical checklist in a screening program for FXS among mentally retarded boys and to explore the clinical features of the absence or deficit of the FMRP and the correlation of the expression rates of FMRP to mental retardation.Methods: Thirty-eight boys of mental retardation and 38 normal boys with the similarity in age were recruited by case-control design. FMRP tests of each specimen were repeated two times and then the general average was gathered. Below the cut-off point of 42% of the expression rates of FMRP as a criterion for the diagnosis of FXS is accepted by international experts. We had analyzed the differences between the case and normal group and between the two time tests. The clinical features of the absence or deficit of FMRP were gathered and 38 mental retardation boys were assessed with the simplified six-item clinical checklist. We evaluated the clinical application of the simplified six-item clinical checklist in children with mental retardation by ROC analysis. We analyzed the correlations among age, clinical feature, mental retardation, ABC scores and the expression rates of the peripheral blood lymphocyte FMRP in fragile X syndrome with the SPSS 12.0 version.Result: 1.Monospecific antibodies against FMRP were used to determine the FMRP expression by immunoperoxidase technique. FMRP in the cytoplasms of the peripheral blood lymphocytes from unaffected individuals could be detected, whereas the cytoplasms from affected males were not labeled for FMRP as illustrated by the absence of the brown precipitate. The cutoff point has been...