Prior T W
Department of Pathology, Ohio State University, Columbus 43210.
Arch Pathol Lab Med. 1991 Oct;115(10):984-90.
Molecular biology techniques have changed the way in which we now consider a patient with Duchenne muscular dystrophy or Becker muscular dystrophy. Using cDNA probes, it has been shown that approximately 65% of the patients with Duchenne muscular dystrophy or Becker muscular dystrophy have gene deletions. The identification of a deletion allows the disease to be confirmed by noninvasive DNA testing. Furthermore, the identification of the gene defect can help distinguish Becker muscular dystrophy from other clinically similar neuromuscular disorders. Most importantly, the elucidation of the gene defects has resulted in the application of direct carrier and prenatal diagnostics.
分子生物学技术改变了我们如今看待杜氏肌营养不良症或贝克肌营养不良症患者的方式。使用互补DNA（cDNA）探针已表明，约65%的杜氏肌营养不良症或贝克肌营养不良症患者存在基因缺失。基因缺失的鉴定使得可以通过非侵入性DNA检测来确诊疾病。此外，基因缺陷的鉴定有助于将贝克肌营养不良症与其他临床症状相似的神经肌肉疾病区分开来。最重要的是，基因缺陷的阐明已促成了直接携带者诊断和产前诊断的应用。
