Muntoni F, Strong P N
Jerry Lewis Muscle Research Centre, Department of Paediatrics and Neonatal Medicine, Royal Postgraduate Medical School, London, England.
FEBS Lett. 1989 Jul 31;252(1-2):95-8. doi: 10.1016/0014-5793(89)80896-8.
Dystrophin is the recently discovered defective gene product in Duchenne and Becker muscular dystrophy (DMD and BMD). Dystrophin transcripts have been amplified and identified in diagnostic needle muscle biopsy samples using the polymerase chain reaction (PCR) procedure. Using 5'- and 3'-primers, dystrophin transcripts can be detected in both DMD and BMD muscle biopsies, on either side of defined deletions within the dystrophin gene.
肌营养不良蛋白是最近在杜兴氏和贝克氏肌肉营养不良症(DMD和BMD)中发现的缺陷基因产物。使用聚合酶链反应(PCR)程序,已在诊断性肌肉活检针吸样本中扩增并鉴定出肌营养不良蛋白转录本。使用5'和3'引物,可在肌营养不良蛋白基因内特定缺失两侧的DMD和BMD肌肉活检样本中检测到肌营养不良蛋白转录本。