| 肌萎缩侧索硬化患者SOD1基因突变检测及突变与临床表型的关系 |
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| 作者姓名： | Niu YF Xiong HL Wu JJ Chen Y Qiao K Wu ZY |
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| 作者单位： | 1. 福建医科大学附属第一医院神经内科,福州350005;复旦大学附属华山医院神经内科,上海200040
2. 复旦大学附属华山医院神经内科,上海,200040 |
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| 基金项目： | 福建省高校创新团队培育计划项目 |
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| 摘 要： | 应用PCR技术结合DNA直接测序方法对8例临床确诊为家族性肌萎缩侧索硬化(Familiar amyotrophic lateral sclerosis,FALS)家系的先证者进行铜锌超氧化物歧化酶基因(SOD1)的突变筛查,在3例先证者中检出2种SOD1基因突变,其中,2例携带了位于4号外显子的错义突变Cys111Tyr(c.332G>A),另1例携带了位于5号外显子的错义突变Gly147Asp(c.440G>A),这2种突变在中国ALS患者中属首次报道。该结果扩大了中国FALS患者的SOD1基因突变谱,对研究中国FALS患者SOD1基因突变特点和分布规律有一定帮助。分析携带这2个突变患者的临床特点,提示Cys111Tyr突变导致的临床表型相对温和,而Gly147Asp突变可导致病情进展较快。该结果有待在更多的病例中进行证实。
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| 关 键 词： | 肌萎缩侧索硬化 SOD1基因 突变 |
Screening of mutations in SOD1 gene and analysis of genotype-phenotype correlation in Chinese patients with amyotrophic lateral sclerosis |
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| Niu YF,Xiong HL,Wu JJ,Chen Y,Qiao K,Wu ZY.Screening of mutations in SOD1 gene and analysis of genotype-phenotype correlation in Chinese patients with amyotrophic lateral sclerosis[J].Hereditas,2011,33(7):720-724. |
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| Authors: | Niu Yan-Fang Xiong Hui-Ling Wu Jian-Jun Chen Yan Qiao Kai Wu Zhi-Ying |
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| Institution: | NIU Yan-Fang1,2,XIONG Hui-Ling1,WU Jian-Jun2,CHEN Yan2,QIAO Kai2,WU Zhi-Ying1,2 1.Department of Neurology,First Affiliated Hospital,Fujian Medical University,Fuzhou 350005,China,2.Department of Neurology,Huashan Hospital,Fudan University,Shanghai 200040 |
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| Abstract: | In this study,we screened for the Cu/Zn superoxide dismutase(SOD1) mutations in 8 probands who had been clinically diagnosed with familiar amyotrophic lateral sclerosis(FALS) using PCR and direct sequencing.Two known mu-tations were detected in the three probands.Two probands carried the same Cys111Tyr(c.332G>A) mutation in exon 4,and others carried Gly147Asp(c.440G>A) mutation in exon 5.These two mutations were first reported in the Chinese ALS patients.After reviewing all clinical data of these three pedi... |
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| Keywords: | amyotrophic lateral sclerosis SOD1 gene mutation |
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