Abstract OBJECTIVE: Fragile X syndrome (FXS) may be identified by many methods, such as PCR assay and Southern blot. However, each method has its limits or shortcomings. This study explored the reliability of the rapid, convenient and inexpensive hair root fragile X mental retardation protein (FMRP ) assay in the identification of FXS. METHODS: FMRP in hair roots was determined by immunohistochemistry assay in 80 healthy children, in 40 children with mental retardation of unknown etiology and in 12 family members in one pedigree of FXS. FXS was confirmed by 7-deza-dGTP PCR. RESULTS: There was a high expression of FMRP in hair roots (≥80%) in healthy children. Two children were confirmed with FXS by 7-deza-dGTP PCR in 40 children with mental retardation of unknown etiology. FMRP expression was 10% and zero respectively in the two children. The other 38 children had FMRP expression of more than 80%. FMRP was not expressed in the two cases of FXS from the pedigree of FXS. CONCLUSIONS: Inexpensive, rapid and convenient hair root FMRP assay is reliable for the diagnosis of FXS and may be widely applied for screening and diagnosing FXS in children with mental retardation.［Chin J Contemp Pediatr, 2009, 11 (10):817-820］
LUO Xu-Feng,ZHONG Jian-Min,ZHANG Xiao-Zhen et al. Hair root fragile X mental retardation protein assay for the diagnosis of fragile X syndrome[J]. 中国当代儿科杂志, 2009, 11(10): 817-820.
LUO Xu-Feng,ZHONG Jian-Min,ZHANG Xiao-Zhen et al. Hair root fragile X mental retardation protein assay for the diagnosis of fragile X syndrome[J]. CJCP, 2009, 11(10): 817-820.
［2］Willemsen R, Oostra B. FMRP detection assay for the diagnosis of the Fragile X syndrome［J］. Am J Med Genet, 2000, 97(4):183-188.
3.0.CO;2-3 target="_blank">
［5］Willemsen R, Anar B, De Diego Otero Y, de Vries BB, HilhorstHofstee Y, Smits A, et al. Noninvasive test for fragile X syndrome, using hair root analysis［J］.Am J Hum Genet, 1999, 65(3):98-103.
［7］Willemsen R, Smits A, Severijnen LA, Jansen M, Jacobs A, Bruyn ED, et al. Predictive testing for cognitive functioning in female carriers of the fragile X syndrome using hair root analysis［J］. J Med Genet, 2003, 40(7):377-379.
［8］Ravindran MS, Patel ZM, Adhia RA, Dsouza AK, Babu S. Validity of analysis of FMRP expression in blood smears as a screening test for Fragile X syndrome in the Indian population［J］. J Clin Lab Anal, 2005, 19(3):120-123.
［9］Willemsen R, Smits A, Mohkamsing S. Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique［J］. Hum Genet, 1997, 99(3):308-311.
［10］Pang CP, Pooh PM, Chen QL. Trinueleotide CGG repeat in the FMR1 gene in Chinese mentally retarded patients［J］. Am J Med Genet, 1999, 84(3):179-183.
3.0.CO;2-C target="_blank">
