陈建芳 陈一心 焦公凯 南京医院大学脑科医院(210029) 中国神经精神疾病杂志 1999 0 0 2


    关键词：脆性X综合征；多聚酶链式反应；FMR-1基因 期刊 zgsjjsjbzz 0 论著与学术交流 fur -->


    

【摘要】 目的 探讨精神发育迟滞患者病因的检测方法。方法 采用细胞遗传学方法检测Xq27脆性位点，利用PCR法检测FMR-1基因突变。结果 1088名精神发育迟滞患者中有112名为脆性X综合征[Fra(X)]患者，97%的Fra(X)有FMR-1基因突变。结论 细胞遗传学方法和PCR法结合运用，可准确有效地诊断出脆性X综合征患者。

    A study on X chromosome fragile site and FMR-1 gene mutation in mentallyretarded children. Chen Jianfang,Chen Yixing， Jiao Guongcai, Brain Hospitalof Nanjing Medical University, 264 Guang Zhou Road Nanjing.210029. Tel:3734114-6307.

    【Abstracts】Objective To explore the methods which finds theaetiology of mentally retarded children. Mehtods Xq27 fragile site andFMR - 1 gene mutation were examined by cytogenetic and PCR method respectively. Results Among1088 cases of mentally retarded children,112 fragile X syndrome were found.It was foundthat 97% of them were FMR-1 gene mutation sufferers. Conclusions Thecombination of FMR - 1 gene mutation by PCR and cytogenetic analysis of fragile siteis a effective approach to diagnose fragile X syndrome.

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