| 遗传性共济失调线粒体DNA 3243、8993点突变的研究 |
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| 引用本文： | 王进,刘慧华,罗曙光.遗传性共济失调线粒体DNA 3243、8993点突变的研究[J].临床神经病学杂志,2006,19(2):149-150. |
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| 作者姓名： | 王进 刘慧华 罗曙光 |
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| 作者单位： | 530021,南宁市,广西医科大学附属第一医院神经内科;桂林南溪山医院 |
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| 基金项目： | 广西自然科学基金资助项目(桂科自0339049) |
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| 摘 要： | 目的研究线粒体DNA点突变与遗传性共济失调(HA)的关系。方法采用聚合酶链反应方法,扩增26例HA患者和35例健康对照者的外周血白细胞线粒体DNA,用限制片断长度多态性分析法检测有无A3243G、T8993G或T8993C点突变。结果所有HA患者和健康对照者均未检测到线粒体DNA点A3243G、T8993G或T8993C点突变。结论线粒体DNAA3243G、T8993G或T8993C基因突变导致HA的可能性不大。
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| 关 键 词： | 遗传性共济失调 线粒体DNA 点突变 |
| 文章编号： | 1004-1648（2006）02-0149-02 |
| 收稿时间： | 2005-06-10 |
| 修稿时间： | 2005-10-24 |
Study of mitochondrial DNA point mutations at positions 3243, 8993 in hereditary ataxia |
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| WANG Jing,LIU Hui-hua,LUO Shu-guang.Study of mitochondrial DNA point mutations at positions 3243, 8993 in hereditary ataxia[J].Journal of Clinical Neurology,2006,19(2):149-150. |
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| Authors: | WANG Jing LIU Hui-hua LUO Shu-guang |
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| Institution: | Department of Neurology, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China |
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| Abstract: | Objective To study the possible relationship between mitochondrial DNA point mutations and hereditary ataxia (HA). Methods Polymerase chain reaction (PCR), restriction fragment length polymophism (RFLP) were performed to search A3243G, T8993G or T8993C point mutations in the amplified mitochondrial DNA of extract human perpheral white blood cells of 26 patients with HA and 35 normal controls. Results No point mutations of mitochondrial DNA A3243G, T8993G or T8993C were found in HA group and control group.Conclusion mitochondrial DNA A3243G, T8993G and T8993C mutations are not likely to be genetic factors of hereditary ataxia. |
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| Keywords: | hereditary ataxia mitochondrial DNA point mutation |
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