Fu Y H, Friedman D L, Richards S, Pearlman J A, Gibbs R A, Pizzuti A, Ashizawa T, Perryman M B, Scarlato G, Fenwick R G
Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
Science. 1993 Apr 9;260(5105):235-8. doi: 10.1126/science.8469976.
The myotonic dystrophy mutation has recently been identified; however, the molecular mechanism of the disease is still unknown. The sequence of the myotonin-protein kinase gene was determined, and messenger RNA spliced forms were identified in various tissues. Antisera were developed for analytical studies. Quantitative reverse transcription-polymerase chain reaction and radioimmunoassay were used to demonstrate that decreased levels of the messenger RNA and protein expression are associated with the adult form of myotonic dystrophy.
强直性肌营养不良突变最近已被确定；然而，该疾病的分子机制仍然未知。已确定肌强直性蛋白激酶基因的序列，并在各种组织中鉴定出信使核糖核酸剪接形式。开发了抗血清用于分析研究。使用定量逆转录聚合酶链反应和放射免疫测定法来证明信使核糖核酸水平降低和蛋白质表达与成人型强直性肌营养不良有关。
Zotero 插件