An Hair Root FMRP Assay For Fragile X Syndrome

Objective Fragile X syndrome(FXS) is one of the most important diseases that cause mental retardation.Its prevalence is only second to Town's syndrome in children with mental retardation.It's important to establish a laboratory diagnostic method for diagnosing FXS that is rapid, convenient,cheap and reliable. Methods The fragile X mental retardation protein (FMRP) in hair roots in eighty healthy children, forty mental retarded children of unknown etiology and 12 family members in one pedigree of fragile X syndrome was determined by immunohistochemistry assay. FXS was identified by 7-deza-dGTP polymerase chain reaction(PCR) at the same time. Results The results showed that there was high expression of FMRP in nearly every hair root in eighty healthy children (≥80%), but that there was little expression of FMRP in two cases with FXS that were identified with 7-deza-dGTP PCR from forty mental retarded children of unknown etiology (10% and 0,respectively) and in another two cases with FXS from an pedigree of FXS(0). Conclusions The study indicated that the hair root FMRP immunohistochemistry assay for FXS was a rapid,convenient,inexpensive,and realiable method. it is possible to widely applied for screening and diagnosising FXS in children with mental retardation.