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| 多重PCR法检测苏南地区Dystrophin基因缺失 | |
| 引用本文： | 俞立强,方琪. 多重PCR法检测苏南地区Dystrophin基因缺失[J]. 中国血液流变学杂志, 2011, 21(4): 576-578. DOI: 10.3969/j.issn.1009-881X.2011.04.004 |
| 作者姓名： | 俞立强 方琪 |
| 作者单位： | 1. 苏州大学附属第一医院特需病区,江苏苏州,215006 2. 苏州大学附属第一医院神经内科,江苏苏州,215006 |
| 摘 要： | 目的研究应用多重PCR法检测Dystrophin基因缺失．并了解苏南地区Dys仃ophin基因缺失的特点。方法应用多重PCR法检测29例假肥大型肌营养不良症患者基因缺失．分析苏南地区Dystrophin基因缺失的分布。结果29例患者共检出15例存在Dystrophin基因缺失．苏南地区Dystrophin基因缺失检出率为51．72％；48号为最常见缺失外显子。结论多重PCR法检测假肥大型肌营养不良症患者基因缺失可靠，可用于临床检测；苏南地区Dystrophir谌因缺失分布特点与国内其他地区差别不大。‘ |
| 关 键 词： | 肌营养不良症 基因缺失 多重PCR |
Detection of Deletions of Dystrophin Gene in South Jiangsu Province Using Multiplex PCR |
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| YU Li-qiang,FANG Qi. Detection of Deletions of Dystrophin Gene in South Jiangsu Province Using Multiplex PCR[J]. Chinese Journal of Hemorheology, 2011, 21(4): 576-578. DOI: 10.3969/j.issn.1009-881X.2011.04.004 | |
| Authors: | YU Li-qiang FANG Qi |
| Affiliation: | 1.The VIP ward of the First Affiliated Hospital to Soochow University, Suzhou,Jiangsu,215006;2.The Neurology Department of the First Affiliated Hospital to Soochow University, Suzhou,Jiangsu,215006) |
| Abstract: | Objective To detect large deletions of Dystrophin gene using multiplex PCR,and to detect the distribution characteristics of Dystrophin gene deletions in the South Jiangsu Province.Methods We detected 29 DMD/BMD cases using multiplex PCR from genomic DNA and analyzed the distribution characteristics of gene deletions. Results 15 cases in 29 are detected deletion,the deletion frequency is 51.72%;Exon 48 is the most common deletion.Conclusion Multiplex PCR could be used for clinical testing.The distribution characteristics of Dystrophin gene deletions in the South Jiangsu Province is not different from other regions of China. |
| Keywords: | muscular dystrophy gene deletion multiplex PCR |
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