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| 假肥大型肌营养不良症患者及携带者的致病基因突变检测 | |
| 引用本文： | 申本昌,苏全喜,冯善伟,梁颖茵,张成.假肥大型肌营养不良症患者及携带者的致病基因突变检测[J].中华神经医学杂志,2008,7(6). |
| 作者姓名： | 申本昌 苏全喜 冯善伟 梁颖茵 张成 |
| 作者单位： | 1. 广州医学院基础学院医学遗传学与细胞生物学教研室,广州,510182 2. 广东药学院第一附属医院神经科,广州,510080 3. 中山大学第一附属医院神经科,中山大学干细胞与组织工程研究中心,广州,510080 |
| 基金项目： | 国家自然科学基金，广东省自然学基金，中国博士后科学基金，广州医学院博士启动/归国留学基金 |
| 摘 要： | 目的 检测假肥大型肌营养不良症患者及携带者的dystrophin基因致病突变类型,为防止假肥大型肌营养不良症的再发提供信息.方法 利用多重引物连接依赖式扩增技术和变性高效液相色谱技术检测临床研究发现的20例假肥大型肌营养不良症患者的DMD基因突变.结果 缺失突变10例,重复突变1例,终止密码子突变4例,5例未发现致病突变.结论 通过致病突变的检测可以为防止患者家庭假肥大型肌营养不良症的再发提供优生优育指导. |
| 关 键 词： | 假肥大型肌营养不良症 缺失 重复 点突变 携带者 |
Identification of disease-causing mutations in DMD gene of Duchenne muscular dystrophy |
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| SHEN Ben-chang,SU Quan-xi,FENG Shan-wei,LIANG Ying-yin,ZHANG Cheng.Identification of disease-causing mutations in DMD gene of Duchenne muscular dystrophy[J].Chinese Journal of Neuromedicine,2008,7(6). | |
| Authors: | SHEN Ben-chang SU Quan-xi FENG Shan-wei LIANG Ying-yin ZHANG Cheng |
| Abstract: | Objective To detect the disease-causing mutations in Duchenne muscular dystrophy (DMD) gene of DMD or Becher's muscular dystrophy (BMD) patients or carriers. Methods Multiplex ligation-dependent probe amplification (MLPA) and denaturing high performance liquid chromatography (DHPLC) were coupled to analyze the disease-causing mutations in DMD gene. Results Ten patients were detected to have deletions in different exons; 1 patient was caused by duplication of exon 50 using DHPLC analysis, and 4 patients were found to be caused by non-sense point mutations. However, the disease-causing mutations of other 5 patients remained to be determined. Conclusion MLPA coupled with DHPLC analysis can be used to detect the disease-causing mutations of DMD or BMD systematically, and provide valuable information for the affected families in preventing from recurrence of DMD or BMD. |
| Keywords: | Duchenne muscular dystrophy Deletion Duplication Point mutation Carrier |
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