通过多重聚合酶链反应定位的肌营养不良蛋白基因缺失在摩拉维亚人群中的分布。
Distribution of dystrophin gene deletions mapped by multiplex PCR in the Moravian population.
作者信息
Fajkusová L, Kuhrovà V, Hájek J, Fajkus J
机构信息
Research Institute of Child Health, Brno, Czech Republic.
出版信息
Mol Cell Probes. 1997 Feb;11(1):85-7. doi: 10.1006/mcpr.1996.0083.
Twenty two Duchenne muscular dystrophy (DMD) patients from the province of Moravia, Czech Republic, were tested for the presence of dystrophin gene rearrangements using multiplex polymerase chain reaction (PCR). Using primer pairs for amplification of two promoter regions and 27 exons, 11 patients were found positive for deletions spanning one or more exons. In all these cases, the deletions affected the distal part of the dystrophin gene, beginning from exon 44 but not reaching exon 60.
来自捷克共和国摩拉维亚省的22名杜兴氏肌营养不良症（DMD）患者接受了多重聚合酶链反应（PCR）检测，以确定肌营养不良蛋白基因重排的存在情况。使用用于扩增两个启动子区域和27个外显子的引物对，发现11名患者存在跨越一个或多个外显子的缺失。在所有这些病例中，缺失影响了肌营养不良蛋白基因的远端部分，从第44外显子开始，但未到达第60外显子。
Zotero 插件