|
|||||
|
|
| 中国人腓骨肌萎缩症小热休克蛋白27基因突变分析 | |
| 引用本文： | 刘小民,唐北沙,赵国华,夏昆,张付峰,潘乾,蔡芳,胡正茂,张成,陈彪,沈璐,张如旭,江泓.中国人腓骨肌萎缩症小热休克蛋白27基因突变分析[J].中华医学遗传学杂志,2005,22(5):510-513. |
| 作者姓名： | 刘小民 唐北沙 赵国华 夏昆 张付峰 潘乾 蔡芳 胡正茂 张成 陈彪 沈璐 张如旭 江泓 |
| 作者单位： | 1. 250014,山东省济南市千佛山医院神经内科 2. 410008,长沙,中南大学湘雅医院神经内科 3. 中国医学遗传学国家重点实验室 4. 中山大学第一附属医院神经内科 5. 首都医科大学宣武医院神经内科 |
| 基金项目： | 国家863计划项目（2004AA227040）;国家自然科学基金（30300200） |
| 摘 要： | 目的 探讨中国人腓骨肌萎缩症（Clmrcot-Marie-Tooth disease，CMT）小热休克蛋白27基因（small heat-shock protein 27，HSP27）的突变特点。方法 应用聚合酶链反应结合DNA序列分析方法，对114个CMT家系的先证者进行HSP27基因突变研究，并进一步对基因突变家系进行单体型分析。结果 在4个常染色体显性遗传CM32家系中发现一个HSP27基因错义突变C379T，单体型分析提示这4个家系很可能具有共同祖先。结论 中国人CMT患者存在HSP27基因突变，但突变率较低（0．90％）。HSP27基因C397T突变除引起远端型遗传性运动神经病外尚可导致CMT2，进一步证实同一CMT疾病基因的同一突变可引起不同的表现型。 |
| 关 键 词： | 中国 腓骨肌萎缩症 小热休克蛋白27 基因突变 遗传因素 运动神经病 |
| 收稿时间： | 2004-09-13 |
| 修稿时间： | 2004年9月13日 |
Mutation analysis of small heat-shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease |
|
| LIU Xiao-min,TANG Bei-sha,ZHAO Guo-hua,XIA Kun,ZHANG Fu-feng,PAN Qian,CAI Fang,HU Zheng-mao,ZHANG Cheng,CHEN Biao,SHEN Lu,ZHANG Ru-xu,JIANG Hong.Mutation analysis of small heat-shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease[J].Chinese Journal of Medical Genetics,2005,22(5):510-513. | |
| Authors: | LIU Xiao-min TANG Bei-sha ZHAO Guo-hua XIA Kun ZHANG Fu-feng PAN Qian CAI Fang HU Zheng-mao ZHANG Cheng CHEN Biao SHEN Lu ZHANG Ru-xu JIANG Hong |
| Institution: | 1. Department of Neurology, Xiantya Hospital, Central South University, Changsha, Hunan, 410008 P. R. China ; 2. National laboratory of Medical Genetics of China, Central South University , Changsha, Hunan, 410008 P. R. China; 3. Department of Neurology, the First Affiliated Hospital, Sun Yat-sen University, Guangzhou,Guangdong, 510000 P.R. China ; 4 Department of Neurology, Xtuunvu Hospital, Capital University of Medical Sciences, Beijing, 100053 P. R. China |
| Abstract: | Objective To investigate the features of small heat-shock protein 27 (HSP27) gene mutation in Chinese patients with Charcot-Marie-Tooth disease (CMT). Methods DNA samples from 114 CMT probands were screened for mutations in?HSP27 gene by polymerase chain reaction and direct sequencing, and haplotype analysis was further carried out on the mutation detected families. Results One missense mutation C379T was detected in 4 autosomal dominant CMT2 families. Haplotype analysis indicated that the 4 families probably had a common ancestor. Conclusion To the authors' knowledge, this is the first report of?HSP27 gene mutation in Chinese patients with CMT, but it may be not common(0.90%). The C379T mutation in?HSP27 gene also causes CMT2 except for distal hereditary motor neuropathy, thus providing further evidence that even the same mutation in the same gene may lead to distinct phenotypes. |
| Keywords: | Charcot-Marie-Tooth disease small heat-shock protein 27 gene gene mutation |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ | |