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| 中国人肝豆状核变性基因18号外显子的构象多态性 | |
| 引用本文： | 马少春,梁秀龄,徐评议. 中国人肝豆状核变性基因18号外显子的构象多态性[J]. 中国神经精神疾病杂志, 2001, 27(2): 86-88 |
| 作者姓名： | 马少春 梁秀龄 徐评议 |
| 作者单位： | 1. 中山医科大学附属第一医院神经科博士研究生现在暨南大学医学院附属第一医院神经科 2. 中山医科大学附属第一医院神经科 |
| 基金项目： | 本课题由国家自然科学基金(编号：39670270)和广东省自然科学基金(编号：954334)资助 |
| 摘 要： | 目的检测肝豆状核变性基因18号外显子在中国人中的突变位点。方法对中国人肝豆状核变性39个家系45个患者的18号外显子进行PCR-SSCP筛选，对有异常者进行序列分析(自动测序)。结果共发现有16个泳动异常，且单链异常位置有两种不同形式。测序结果经与正常对照及与GENEBANK比较，证实均无突变存在。结论肝豆状核变性18号外显子在中国人存在单链构象多态，不是突变热区，与欧洲人明显不同。 |
| 关 键 词： | 肝豆状核变性 遗传学 基因突变 外显子 |
| 修稿时间： | 2000-06-10 |
Confirm polymorphisms in exon 18 of Wilson disease gene in Chinese. |
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| Ma Shaochun,LIANG Xiuling,XU Pingyi. Confirm polymorphisms in exon 18 of Wilson disease gene in Chinese.[J]. Chinese Journal of Nervous and Mental Diseases, 2001, 27(2): 86-88 | |
| Authors: | Ma Shaochun LIANG Xiuling XU Pingyi |
| Affiliation: | Ma Shaochun,Liang Xiuling,Xu Pingyi. Department of Neurology,The First Affiliated Hospital,Medical College of Jinan University,Huangpu Av,Guangzhou. 510630. Tel:020 85516832 |
| Abstract: | Objective To screen for gene mutation of exon 18 in Chinese patients with Wilson disease. Methods PCR SSCP was used to screen exon 18 in 45 Wilson disease patients among 39 Chinese families and 10 normal controls. Those with abnormality were further analyzed by necleotide sequence analysis. Results There were 16 mobility shift with two different styles in exon 18. All abnormal mobility shifts were sequence analysed. No gene mutation was found. Conclusions Our result suggest that, contrary to findings in Caucasians, exon 18 is not a frequent mutation point in Chinese patients with Wilson disease. |
| Keywords: | Wilson disease Genetics Gene mutation Exon |
| 本文献已被 CNKI 万方数据 等数据库收录！ | |