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为研究脆性X综合征 (fragileXsyndrome ,FraXS)的遗传学特征 ,提高诊断和遗传咨询水平 ,积极有效地治疗 ,降低复发风险。本实验采用低叶酸TC199培养基诱导脆性X染色体 (FraX)的方法 ,对具有FraXS临床特征的智低患儿 45 0名进行FraX检测 ,发现FraXS 95名 ,检出率 2 1 11% ,检测智低患儿母亲 32 0名 ,有FraX表达者 48名。结果提示 ,FraXS经临床筛选后有较高检出率 ,其智低程度与FraX表达频率有关 ;分析和探讨了FraXS动态突变的分子遗传学基础和亲子代传递的规律。
In order to study the genetic characteristics of fragile X syndrome (FraXS), improve the level of diagnosis and genetic counseling, and actively and effectively treat and reduce the risk of recurrence. In this study, FraX was detected in 460 children with Chi-Frans syndrome by FraXS assay using low folate TC199 medium. FraXS 95 were detected, with a detection rate of 21.11% There were 320 mothers with low infants and 48 with FraX expression. The results suggest that FraXS has a higher detection rate after clinical screening, and its intelligence level is related to the frequency of FraX expression. The molecular genetic basis of FraXS dynamic mutation and the law of parent-offspring transmission are analyzed and discussed.