杜兴氏和贝克氏肌营养不良症突变：使用来自该基因5'端的2.6 kb肌肉cDNA进行分析。
Duchenne and Becker muscular dystrophy mutations: analysis using 2.6 kb of muscle cDNA from the 5' end of the gene.
作者信息
Smith T J, Forrest S M, Cross G S, Davies K E
机构信息
Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford, UK.
出版信息
Nucleic Acids Res. 1987 Dec 10;15(23):9761-9. doi: 10.1093/nar/15.23.9761.
We have isolated overlapping human fetal muscle cDNAs encompassing 2.6kb which are localised very close to the 5' end of the Duchenne muscular dystrophy (DMD) gene. Using DNA from patients with deletions of previously reported genomic probes, we have mapped the exons across the region. Investigation of deletions in both DMD and Becker muscular dystrophy (BMD) patients shows the deletions to be present in 10% of cases and heterogeneous.
我们分离出了重叠的人类胎儿肌肉cDNA，其长度约为2.6kb，定位在杜氏肌营养不良症（DMD）基因5'端附近。利用先前报道的基因组探针缺失患者的DNA，我们绘制了该区域的外显子图谱。对DMD和贝克肌营养不良症（BMD）患者的缺失情况进行研究发现，10%的病例存在缺失，且具有异质性。
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