| 应用SSCP方法诊断遗传性血小板减少综合征 |
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| 引用本文： | 吴祥红,李金梅,康晓明,孟庆云,王凤芝,杨占双,陈秀华.应用SSCP方法诊断遗传性血小板减少综合征[J].黑龙江医药科学,2012,35(5):24-25. |
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| 作者姓名： | 吴祥红 李金梅 康晓明 孟庆云 王凤芝 杨占双 陈秀华 |
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| 作者单位： | 佳木斯大学附属第一医院儿科,黑龙江佳木斯,154003 |
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| 基金项目： | 黑龙江省卫生厅科研项目,编号：2005-355;2011-364. |
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| 摘 要： | 目的:利用SSCP方法对一血小板减少症伴巨型血小板家系进行遗传学分析,分析其基因突变位点,确定其发病机制。方法:采用PCR结合SSCP的方法对血小板减少症家系进行遗传学分析。结果:此家系为MYH9基因突变相关的常染色体显性遗传性血小板减少综合征。结论:遗传学分析可以辅助确诊遗传性血小板减少综合征。
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| 关 键 词： | 遗传性血小板减少征 遗传学分析 |
The diagnosis of hereditary thrombocytopenia syndrome through the application of SSCP method |
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| WU Xiang-hong
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LI Jin-mei
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KANG Xiao-ming
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MENG Qing-yun
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WANG Feng-zhi
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YANG Zhan-shuang
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CHEN Xiu-hua.The diagnosis of hereditary thrombocytopenia syndrome through the application of SSCP method[J].Heilongjiang Medicine and Pharmacy,2012,35(5):24-25. |
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| Authors: | WU Xiang-hong LI Jin-mei KANG Xiao-ming MENG Qing-yun WANG Feng-zhi YANG Zhan-shuang CHEN Xiu-hua |
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| Institution: | WU Xiang - hong , LI Jin - mei, KANG Xiao - ruing, MENG Qing - yun, WANG Feng - zhi, YANG Zhan - shuang, CHEN Xiu - hua (Department of Pediatrics, First Afiliated Hospital of Jiamusi University, Jiamusi 154003, China) |
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| Abstract: | Objective： To investigate a thrombocytopenia with giant platelet family by the genetics meth- ods, analyze the gene mutations, and determine its pathogenesis. Method： Analyzing the thrombocytopenia family by using PCR and sequencing target DNA. Results： This family is for MYH9 gene mutations related au- tosomal dominant inherited thrombocytopenia syndrome. Conclusion： The application of genetic analysis can help to diagnose the hereditary thrombocytopenia syndrome. |
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| Keywords: | thrombocytopenia syndrome |
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