| 抗肌营养不良蛋白基因内MP1P位点多态性分析及其应用 |
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| 引用本文： | 黄尚志 初海鹰. 抗肌营养不良蛋白基因内MP1P位点多态性分析及其应用[J]. 中华医学遗传学杂志, 1994, 11(4): 197-199,T014 |
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| 作者姓名： | 黄尚志 初海鹰 |
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| 作者单位： | 中国医科科学院基础医科研究所中国协和医科大学基础医学院医学遗传室，大连计划生育科学研究所，中国人民解放军兰州军区乌鲁木齐总医院 |
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| 基金项目： | 国家“85”攻关项目,美国CMB基金 |
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| 摘 要： | 应用银染聚丙烯酰胺凝胶法，对抗肌营养不良蛋白基因３＇非翻译区ＭＰ１Ｐ位点进行了扩增片段长度多态性分析。此位点在中国人中有多态性，共检出３个等位片段，汉族人群中３个等位片段的频率分别为０．１４１、０、７０３、０．１５６，ＰＩＣ为０．４６２，回族人群中的频率分别为０．１８２、０．５９１、０．２２７，ＰＩＣ为０．５６６。此位点与３＇不翻译区的３＇ＣＡ位点存在连锁不平衡性，在连锁分析中可替代３＇ＣＡ作为基
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| 关 键 词： | 肌营养障碍 DNA 多态性 |
AMP-FLP ANALYSIS ON MP1P SITE AT THE 3''UNTRANSLATED REGION OF DYSTROPHIN GENE AND ITS APPLICATION TO LINKAGE ANALYSIS IN GENE DIAGNOSIS OF DMD |
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| Huang Shangzhi,Chu Haiying,Xu Shunbin,et al.. AMP-FLP ANALYSIS ON MP1P SITE AT THE 3''UNTRANSLATED REGION OF DYSTROPHIN GENE AND ITS APPLICATION TO LINKAGE ANALYSIS IN GENE DIAGNOSIS OF DMD[J]. Chinese journal of medical genetics, 1994, 11(4): 197-199,T014 |
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| Authors: | Huang Shangzhi Chu Haiying Xu Shunbin et al. |
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| Abstract: | Amp-FLP haplotype linkage analysis is useful in DMD/BMD gene diagnosis.In order to get more information at the 3'end of the dystrophin gene,we analyzed the polymorphisms of a four nucleotide repeat sequence,MP1P,within the 3'untranslated region.The amplified fragments were separated by polyacrylamide gel electrophoresis and the gel was silver stained.Three alleles were observed with the frequences of 0.141,0.703 and 0.156 in Han nationality,and 0.182,0.591 and 0.227 in Hui nationality.The PIC were 0.462 and 0.566 respectively in these two nationalities.The MP1P site is more informative than the 3'CA site and can take the place of the 3'CA site in gene diagnosis. |
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| Keywords: | Muscular dystrophy DNA Polymorphism(Genetics) |
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