| 4例假肥大型肌营养不良患儿的基因检测及临床分析 |
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| 引用本文： | 涂泽蓉,史常旭,梁志清,姚宏,常青.4例假肥大型肌营养不良患儿的基因检测及临床分析[J].重庆医学,2008,37(6):632-634. |
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| 作者姓名： | 涂泽蓉 史常旭 梁志清 姚宏 常青 |
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| 作者单位： | 第三军医大学西南医院妇产科,重庆,400038;第三军医大学西南医院妇产科,重庆,400038;第三军医大学西南医院妇产科,重庆,400038;第三军医大学西南医院妇产科,重庆,400038;第三军医大学西南医院妇产科,重庆,400038 |
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| 摘 要： | 目的假肥大型肌营养不良(DMD)基因缺失的检测,为进一步产前基因诊断提供可靠的方法。方法采用18对引物的多重链式聚合酶反应(mPCR)检测4例DMD患儿的基因突变类型。结果4例患儿中2例检测出基因缺失,其中1例患儿为50、51外显子缺失,另1例患儿为43外显子缺失。结论mPCR在DMD基因缺失诊断中具有快速、准确、经济、简便的特点,便于临床推广。
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| 关 键 词： | 肌营养不良 基因检测 mPCR |
| 文章编号： | 1671-8348(2008)06-0632-03 |
| 修稿时间： | 2007年9月2日 |
Gene detection of duchenne's muscular dystrophy for four patients and clinical analysis |
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| TU Ze-rong,SHI Chang-xu,LIANG Zhi-qing,et al..Gene detection of duchenne's muscular dystrophy for four patients and clinical analysis[J].Chongqing Medical Journal,2008,37(6):632-634. |
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| Authors: | TU Ze-rong SHI Chang-xu LIANG Zhi-qing |
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| Abstract: | Objective To detection the gene deletions of Duchenne's muscular dystrophy(DMD) and to provide the eliable method for the antepartum gene diagnosis.Methods Detection of D-MD gene deletions in18 pairs of primers was applied for four DMD's Patients.Results Two patients' gene was deleted among the four patients.One patients'gene had deletons of 50 and 51 exton,the other patients' gene had deletons of the 43 exton.Conclusion mPCR of 18 pairs of primers is a quick,accurate,economic and practical method in detection of DMD gene deletions and easy to clinical generalization. |
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| Keywords: | muscular dystrophy gene detection mPCR |
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