外周血淋巴细胞FMRP检测在脆性X综合征中的应用

目的 探讨外周血脆性X智力低下蛋白(fragile X mental retardation protein,FMRP)表达对脆性X综合征(fragile X syndrome,FXS)的诊断价值.方法 运用免疫细胞化学方法对38例不明原因的智力低下男性患儿的FMRP进行外周血淋巴细胞FMRP表达检测,并与38例年龄相近、智商或发育商均大于85的正常男性患儿比较,同时对FXS儿童FMRP表达水平与智力水平进行相关分析.结果 通过FMRP检测,智力低下组符合FXS诊断标准者5例,正常对照组外周血淋巴细胞FMRP表达均未达到诊断标准(P=0.022);FXS患儿FMRP表达率与发育商或智商间的相关性没有统计学意义(r=-0.610,P=0.275).结论 外周血淋巴细胞FMRP免疫细胞化学检测方法是一种具有快速、简便、价廉等优点的FXS实验诊断方法,可以用作FXS的诊断和筛查.

Application of the FMRP detection in the peripheral blood lymphocytes of children with fragile X syndrome

Objective To investigate the value of FMR1 protein(FMRP) determination in the peripheral blood lymphocytes in diagnosing fragile X syndrome(FXS)among mentally retarded boys of unknown causes.Methods Thirty-eight boys of mental retardation of unknown causes and 38 normal boys were recruited to determine the FMRP levels in the peripheral blood lymphocyteby.And the correlations between intelligence quotient(IQ)and the expression rates of the peripheral blood lymphocyte FMRP in FXS was analyzed.Results Five boys in case group but no one in normal group was below the cut off point and was diagnosed as FXS,and there were no statistical significances in the expression rates of the peripheral blood lymphocyte FMRP between two groups(P=0.022).There were no correlations between the development quotient(DQ)or intelligence quotient(IQ)and the expression rates of the peripheral blood lymphocyte FMRP in FXS cases(r=-0.610,P=0.275).Conclusion The FMRP determination in the peripheral blood lymphocytes for FXS is simple, rapid,low-cost,and can be applied for screening and diagnosis of FXS from mentally retarded boys.