| PCR-SSCP技术检测中国人肝豆状核变性基因第18、14外显子突变 |
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| 引用本文： | 祁艾红,吴健民,崔天盆. PCR-SSCP技术检测中国人肝豆状核变性基因第18、14外显子突变[J]. 中国现代医学杂志, 2006, 16(12): 1831-1832,1836 |
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| 作者姓名： | 祁艾红 吴健民 崔天盆 |
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| 作者单位： | 华中科技大学同济医学院附属协和医院,检验科,湖北,武汉,430022 |
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| 基金项目： | 湖北省科技厅科技攻关项目 |
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| 摘 要： | 目的 了解中国人肝豆状核变性（WD）患者基因第18、第14外显子的突变情况，为掌握该痛的突变特点并进行基因诊断提供依据。方法 聚合酶链反应-单链构象多态性（PCR—SSCP）检测中国人WD基因第18、14外显子突变，并对异常带型进行直接DNA测序。结果 45例患者和20例正常人的18外显子PCR—SSCP出现两种泳动带型，异常带型测序证实无突变存在。14号外显子PCR—SSCP出现的带型均一致，结论 14外显子和18外显子可能不是中国人WD基因突变的热区。
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| 关 键 词： | 肝豆状核变性 基因突变 外显子 聚合酶链反应-单链构象多态性 |
| 文章编号： | 1005-8982（2006）12-1831-02 |
| 收稿时间： | 2005-09-14 |
| 修稿时间： | 2005-09-14 |
Identification of exon 18 and exon 14 mutation of WD gene with PCR-SSCP |
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| QI Ai-hong,WU Jian-min,CUI Tian-pen. Identification of exon 18 and exon 14 mutation of WD gene with PCR-SSCP[J]. China Journal of Modern Medicine, 2006, 16(12): 1831-1832,1836 |
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| Authors: | QI Ai-hong WU Jian-min CUI Tian-pen |
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| Affiliation: | Department of Test, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430022, P.R.China |
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| Abstract: | [Objective] To investigate the mutations of WD gene in exon 18 and exon 14, and provide information for gcne diagnoses. [Methods] Use PCR-SSCP technique to find the abnormity, the abnormity was sequenced. [Results] One case was found abnormal band in exon 18 of 45 patients and 20 normal controls, but no gene mutation was found, [Conclusions] The results suggest that exon 18 and exon 14 may not be frequent mutation points in Chinese Wilson disease. |
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| Keywords: | Wilson disease gene mutations exon PCR-SSCP |
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