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| 安徽地区脊髓小脑性共济失调患者不同基因亚型分布频率的研究 | |
| 引用本文： | 程楠,赵静,王训,胡纪源,韩咏竹,杨任民. 安徽地区脊髓小脑性共济失调患者不同基因亚型分布频率的研究[J]. 安徽医学, 2011, 32(2): 131-133,257. DOI: 10.3969/j.issn.1000-0399.2011.02.001 |
| 作者姓名： | 程楠 赵静 王训 胡纪源 韩咏竹 杨任民 |
| 作者单位： | 安徽中医学院神经病学研究所附属医院,合肥,230061;安徽中医学院神经病学研究所附属医院,合肥,230061;安徽中医学院神经病学研究所附属医院,合肥,230061;安徽中医学院神经病学研究所附属医院,合肥,230061;安徽中医学院神经病学研究所附属医院,合肥,230061;安徽中医学院神经病学研究所附属医院,合肥,230061 |
| 基金项目： | 安徽省高等学校自然科学研究项目 |
| 摘 要： | 目的 研究安徽地区脊髓小脑性共济失调(SCA)患者各基因亚型的分布频率.方法 以临床诊断为SCA的15个家系39例患者和20例散发患者为研究对象,PCR扩增SCA1、SCA2、SCA3和SCA6基因的三核苷酸重复(TNR)片段并行变性聚丙烯酰胺凝胶电泳估算TNR片段的重复次数,对异常者行DNA克隆测序证实.结果 SCA... |
| 关 键 词： | 脊髓小脑性共济失调 基因型 三核苷酸重复扩增 |
Frequency of different gene subtypes of patients with spinocerebellar ataxia in Anhui region |
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| Cheng Nan,Zhao Jing,Wang Xun,et al Affiliated Hospital of Institute of Neurology,Anhui College of TCM,Hefei ,China. Frequency of different gene subtypes of patients with spinocerebellar ataxia in Anhui region[J]. Anhui Medical Journal, 2011, 32(2): 131-133,257. DOI: 10.3969/j.issn.1000-0399.2011.02.001 | |
| Authors: | Cheng Nan Zhao Jing Wang Xun et al Affiliated Hospital of Institute of Neurology Anhui College of TCM Hefei China |
| Affiliation: | Cheng Nan,Zhao Jing,Wang Xun,et al Affiliated Hospital of Institute of Neurology,Anhui College of TCM,Hefei 230031,China |
| Abstract: | Objective To study the frequency of different gene subtype of patients with spinocerebellar ataxia(SCA) in Anhui region.Methods There were 39 patients with autosomal dominant SCA from 15 families and 20 sporadic SCA patients.The trinucleotide repeat(TNR) of SCA1,SCA2,SCA3 and SCA6 gene were amplificated by PCR.The numbers of TNR were estimated by denaturing polyacrylamide gel electrophoresis and confirmed by DNA sequencing.Results The detection rate of SCA3 gene subtype was 33.33% in SCA families and the to... |
| Keywords: | Spinocerebellar ataxia Genes type Trinucleotide repeat expansion |
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