| 精神发育迟滞患者的X染色体脆性位点和FMR-1基因突变的研究 |
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| 引用本文： | 陈建芳 陈一心 焦公凯. 精神发育迟滞患者的X染色体脆性位点和FMR-1基因突变的研究[J]. 中国神经精神疾病杂志, 1999, 0(2): 63 |
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| 作者姓名： | 陈建芳 陈一心 焦公凯 |
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| 作者单位： | 南京医院大学脑科医院 |
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| 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
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| 关 键 词： | 脆性X综合征 多聚酶链式反应 FMR－1基因 |
A study on X chromosome fragile site and FMR-1 gene mutation in mentally retarded children. |
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| Chen Jianfang,Chen Yixing,Jiao Guongcai,Brain Hospital of Nanjing Medical University, Guang Zhou Road Nanjing.. Tel:-.. A study on X chromosome fragile site and FMR-1 gene mutation in mentally retarded children.[J]. Chinese Journal of Nervous and Mental Diseases, 1999, 0(2): 63 |
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| Authors: | Chen Jianfang Chen Yixing Jiao Guongcai Brain Hospital of Nanjing Medical University Guang Zhou Road Nanjing.. Tel:-. |
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| Affiliation: | Chen Jianfang,Chen Yixing,Jiao Guongcai,Brain Hospital of Nanjing Medical University,264 Guang Zhou Road Nanjing.210029. Tel:3734114-6307. |
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| Abstract: | Objective To explore the methods which finds the aetiology of mentally retarded children. Mehtods Xq27 fragile site and FMR-1 gene mutation were examined by cytogenetic and PCR method respectively. Results Among 1088 cases of mentally retarded children,112 fragile X syndrome were found.It was found that 97% of them were FMR-1 gene mutation sufferers. Conclusions The combination of FMR-1 gene mutation by PCR and cytogenetic analysis of fragile site is a effective approach to diagnose fragile X syndrome. |
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| Keywords: | Fragile X syndrome Polymerase chian reaction FMR-1 gene |
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