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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 syn-drome,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。
Objective To investigate the diagnostic value of fragile X mental retardation protein (FMRP) expression in the diagnosis of fragile X syn-drome (FXS). Methods Immunocytochemistry was used to detect the expression of FMRP in peripheral blood lymphocytes in 38 unrelated males with mental retardation and compared with 38 normal males with similar ages and IQ of more than 85, The correlation between FMRP expression level and intelligence level in children with FXS was analyzed. Results FMRP was used to detect FMRP in peripheral blood of 5 patients with mental retardation who met the criteria of FXS. The FMRP expression in peripheral blood lymphocytes of normal controls did not reach the diagnostic criteria (P = 0.022). The correlation between FMRP expression and developmental or IQ Sex was not statistically significant (r = -0.610, P = 0.275). Conclusion FMRP immunocytochemical detection of peripheral blood lymphocytes is a rapid, simple, inexpensive method for the diagnosis of FXS. It can be used as a diagnostic and screening tool for FXS.