Forrest S M, Cross G S, Flint T, Speer A, Robson K J, Davies K E
Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford, United Kingdom.
Genomics. 1988 Feb;2(2):109-14. doi: 10.1016/0888-7543(88)90091-2.
Fetal muscle cDNA clones covering at least 11.4 kb of the Duchenne muscular dystrophy (DMD) gene sequence were used to identify a deletion-prone region in DNA from DMD and Becker muscular dystrophy (BMD) patients. Of 36 BMD cases, 17 (47%) had deletions and all of the deletions began in the same intron of the gene. Of 107 DMD patients, 27 (25%) were deleted for this region, and 19 deletions originate in the same intron. Using a cDNA probe for an adjacent region of the gene, 32 new deletions were detected in DMD patients (total 44%). No new BMD deletions were detected. The DMD deletions were very heterogeneous. Thus two cDNA probes covering 2.4 kb could detect 53% of these deletions. Considering the whole locus, DMD and BMD are caused by a deletion of the gene sequence in at least 67% of cases.
利用覆盖杜兴氏肌营养不良症（DMD）基因序列至少11.4 kb的胎儿肌肉cDNA克隆，来鉴定DMD和贝克氏肌营养不良症（BMD）患者DNA中的一个易发生缺失的区域。在36例BMD病例中，17例（47%）存在缺失，且所有缺失均始于该基因的同一个内含子。在107例DMD患者中，27例（25%）该区域发生缺失，其中19处缺失起源于同一个内含子。使用针对该基因相邻区域的cDNA探针，在DMD患者中检测到32处新的缺失（总计44%）。未检测到新的BMD缺失。DMD缺失非常异质性。因此，覆盖2.4 kb的两个cDNA探针可检测到这些缺失中的53%。就整个基因座而言，至少67%的DMD和BMD病例是由基因序列缺失引起的。
