| 脊髓小脑性共济失调分子遗传学研究进展 |
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| 引用本文： | 谭建强,袁志刚. 脊髓小脑性共济失调分子遗传学研究进展[J]. 医学综述, 2008, 14(20): 3058-3060 |
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| 作者姓名： | 谭建强 袁志刚 |
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| 作者单位： | 广西医科大学基础医学院,南宁,530021 |
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| 摘 要： | 遗传性共济失调是一类由于遗传因素造成的单基因神经系统变性疾病,不同位点的三核苷酸重复扩增导致不同的遗传亚型。现已发现20余种亚型的脊髓小脑性共济失调,多数是由于致病基因内存在CAG重复片段异常扩增,导致含有多聚谷氨酰胺链的突变蛋白在细胞核内沉积形成核内包涵体。
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| 关 键 词： | 脊髓小脑性共济失调 神经变性性疾病 三核苷酸重复扩增 |
Progress about Molecular Genetics of Spinocerebellar Ataxias |
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| TAN Jian-qiang,YUAN Zhi-gang. Progress about Molecular Genetics of Spinocerebellar Ataxias[J]. Medical Recapitulate, 2008, 14(20): 3058-3060 |
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| Authors: | TAN Jian-qiang YUAN Zhi-gang |
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| Affiliation: | TAN Jian-qiang,YUAN Zhi-gang.(College of Pre-clinical edicine,Guangxi Medical University,Nanning 530021,China) |
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| Abstract: | Hereditary ataxia is a group of hereditary neurodegenerative disorders related to single gene caused by genetic factors.Repeated amplificationof trinucleotide in different genetic locus will result in different genetic subtype.To date,more than 20 kinds of subtypes of genetic spinocerebellar have been identified.The most is related to the abnormal amplication of CAG repeated fragment in the virulence gene,which will result in the mutant protein having poly-glutamine chain accumulating in nucleus to form int... |
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| Keywords: | Spinocerebellar ataxias Neurodegenerative disorders Repeated amplification of Trinucleotide |
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