Gutmann D H, Fischbeck K H
Neurology Department, Hospital of the University of Pennsylvania, Philadelphia 19104.
Ann Neurol. 1989 Aug;26(2):189-94. doi: 10.1002/ana.410260202.
Recent advances in molecular genetics have led to the isolation of the gene defective in patients with Duchenne and Becker's muscular dystrophy and the characterization of its protein product, dystrophin. In this communication, the developments culminating in the identification of the Duchenne muscular dystrophy locus are reviewed. The practical applications of this research and pitfalls that limit prenatal diagnosis and carrier detection are discussed.
分子遗传学的最新进展已促使人们分离出杜兴氏和贝克氏肌肉营养不良症患者体内存在缺陷的基因,并对其蛋白质产物抗肌萎缩蛋白进行了表征。在本通讯中,回顾了最终确定杜兴氏肌肉营养不良症基因座的一系列进展。讨论了这项研究的实际应用以及限制产前诊断和携带者检测的陷阱。