Gallano P, Lasa A, Baiget M
Unidad de Genética Molecular, Hospital de la Santa Creu i Sant Pau, Barcelona.
Neurologia. 1995 Dec;10 Suppl 1:8-11.
In 1987 a new concept in the X-linked muscular dystrophies was born with the identification of dystrophin, a cytoskeletal protein responsible for several muscular diseases previously grouped as Duchenne's or Becker's muscular dystrophies (DMD and BMD, respectively). Under the new concept these entities are referred to as dystrophinopathies. The discovery of dystrophin was made possible when polymerase chain reaction and reverse genetics opened the door to DNA examination. The DMD/BMD gene was located and sequenced and the protein product, dystrophin, was fully identified. The genetic study of dystrophinopathies was extended in the 1990's to include DNA analysis aimed at 1) discovering points of deletion or mutation that give rise to Xp21 myopathies, as dystrophinopathies are also known; 2) identifying the rules of protein translation (interruption or reading "signals" of the protein's genetic code), and 3) identifying atypical clinical phenotypes that can be diagnosed on a molecular level using anti-dystrophin antibodies or DNA probes.
1987年，随着抗肌萎缩蛋白的发现，X连锁肌营养不良症领域诞生了一个新概念。抗肌萎缩蛋白是一种细胞骨架蛋白，与之前归类为杜氏或贝克型肌营养不良症（分别为DMD和BMD）的几种肌肉疾病有关。在这个新概念下，这些病症被称为抗肌萎缩蛋白病。当聚合酶链反应和反向遗传学为DNA检测打开大门时，抗肌萎缩蛋白的发现成为可能。DMD/BMD基因被定位并测序，其蛋白质产物抗肌萎缩蛋白也得到了全面鉴定。20世纪90年代，抗肌萎缩蛋白病的遗传学研究得以扩展，包括旨在进行以下方面的DNA分析：1）发现导致Xp21肌病（抗肌萎缩蛋白病的另一个名称）的缺失或突变点；2）确定蛋白质翻译规则（蛋白质遗传密码的中断或读取“信号”）；3）识别可以使用抗抗肌萎缩蛋白抗体或DNA探针在分子水平上进行诊断的非典型临床表型。
