| 腓骨肌萎缩症分子突变研究现状 |
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| 引用本文： | 范晓博[综述],崔英霞,黄宇烽[审校].腓骨肌萎缩症分子突变研究现状[J].中国优生与遗传杂志,2010(9):5-7,14. |
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| 作者姓名： | 范晓博[综述] 崔英霞 黄宇烽[审校] |
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| 作者单位： | 南京军区南京总医院解放军检验医学研究所,江苏南京210002 |
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| 基金项目： | 国家自然科学基金（编号：0901652） |
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| 摘 要： | 腓骨肌萎缩症(charcot marie tooth disease,CMT)是一组高发病率的周围神经系统的单基因遗传病,具有临床和遗传异质性。可分为CMT1型,CMT2型,CMTX型和CMT4型。近些年随着分子遗传学和分子生物学的快速发展,已经发现了很多CMT的相关致病基因。主要包括外周髓鞘蛋白22基因、髓鞘蛋白零蛋白基因、间隙连接蛋白-32基因、驱动蛋白1B基因、Ras相关蛋白7基因、小分子热休克蛋白27基因等。本文就CMT相关致病基因研究现状作一综述。
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| 关 键 词： | 腓骨肌萎缩症 外周髓鞘蛋白22基因 髓鞘蛋白零蛋白基因 间隙连接蛋白-32基因 |
An overview of molecular mutations of charcot marie tooth disease |
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| Institution: | FAN Xiao-bo,CUI Ying-xia,HUANG Yu-feng.(Department of Reproduction and Genetics,PLA Research Institute of Clinical Laboratory Medicine,Nanjing General Hospital of Nanjing Military Region,Nanjing,Jiangsu 210002,China) |
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| Abstract: | Charcot marie tooth disease（CMT）,the most common hereditary neuropathy,is clinically and genetically heterogeneous.The majority of cases can be classified as CMT1,CMT2,CMTX,or CMT4.Each of these types can be further divided into subtypes.With the rapid development of the genetics and molecular biology.There are many CMT causing genes,including peripheral myelin protein 22,myelin zero protein gene,connexin 32 gene,kinesin gene,Ras-associated protein 7 gene and heat-shock 27 kD protein gene et al.This review focuses on molecular mutations of CMT. |
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| Keywords: | Charcot marie tooth disease PMP22 MPZ Cx32 |
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