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Kunkel小组研究鉴定和克隆了Duchenne基因。该基因位于X染色体短臂Xp21。鉴定了正常基因产物,使我们对与Xp21缺陷有关的肌病(“Xp21肌病”)有了新认识。巨大的Duchenne基因(2百万bp)及其相关mRNA(14kb)表明基因产物可能是高分子量蛋白(约400kD)。已知的最有争议的高分子量肌蛋白似为nebulin(约500kD)。1987年报道了Duchenne型肌营养不良(DMD)患者肌肉缺乏或大量减少nebulin。后来的工作证明nebulin不是Duchenne基因产物。 Kunkel小组进一步工作鉴定了正常基
The Kunkel team studied the identification and cloning of the Duchenne gene. This gene is located on the X chromosome short arm Xp21. The identification of normal gene products gave us a new understanding of myopathy associated with the Xp21 defect (“Xp21 myopathy”). The huge Duchenne gene (2 million bp) and its associated mRNA (14 kb) indicate that the gene product may be a high molecular weight protein (about 400 kD). Known as the most controversial high molecular weight muscle protein nebulin (about 500kD). In 1987, muscle weakness or massive reduction of nebulin was reported in Duchenne muscular dystrophy (DMD) patients. Later work proved that nebulin is not a Duchenne gene product. Further work by the Kunkel team identified normal bases