| 多聚酶链式反应检测FMR－1基因突变 |
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| 引用本文： | 贺明伟,赖伏英,孙黎,王光平,陈朝晖,吕冰清,周伯通.多聚酶链式反应检测FMR－1基因突变[J].中华医学遗传学杂志,1995(3). |
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| 作者姓名： | 贺明伟 赖伏英 孙黎 王光平 陈朝晖 吕冰清 周伯通 |
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| 作者单位： | 湖南医科大学附属湘雅医院中心实验室 |
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| 摘 要： | 采用多聚酶链式反应（ＰＣＲ）结合银染或非同位素杂交的方法，对１５例脆性Ｘ染色体阳性的患者和携带者进行了检查。结果显示，该方法可以检出ＦＭＲ－１正常扩增带、前突变与完全突变，与细胞遗传学检查相比，ＰＣＲ检测更为快捷与准确。
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| 关 键 词： | 多聚酶链式反应，脆性X综合征，基因突变 |
DETECTION OF FMR-1 GENE MUTATION BY PLOLYMERASE CHAIN REACTION |
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| He Mingwei,Lai Fuying,Sun Li,et al..DETECTION OF FMR-1 GENE MUTATION BY PLOLYMERASE CHAIN REACTION[J].Chinese Journal of Medical Genetics,1995(3). |
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| Authors: | He Mingwei Lai Fuying Sun Li |
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| Abstract: | Using PCR,we studied the fragile X positive patients and carriers.The analysis was performed as S.H.Erster,but PCR products were detected either by silver staining,or by hybridization with biotin labeled probes and immunologic detection.The PCR products of normal indivlduals,the premutation and the full mutation can be detected by this method.Compared with the cytogenetic method,PCR analysis is more accurate and faster, |
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| Keywords: | Polymerase chain reaction Fragile X syndrome Gene mutation |
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