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近年来,对神经疾病的关注明显加深,在这个领域的研究,也取得了惊人的进步。本文主要是综述1986年9月至1987年8月的国内外文献,介绍一下神经学方面的进展情况和当前存在的问题。一、肌肉疾病在这个领域,最近遗传基因解析显著发展起来。由于利用多型性DNA 片段进行链锁分析的方法,在1985年成功地进行了假性肥大型营养不良症(DMD)部分DNA 片段的克隆化。继而,通过世界上20多个单位的合作,对于多数的DMD 和BMD(性链锁遗传的缓慢进行性肌营养不良症)的病例,研究了那个被命名为pERT87的克隆有无缺失的情况。结果表明,约有4～5%的缺失率。经进一步研究发现,从pERT87的部位得到的亚克隆之一是从人胎儿骨骼肌得到的RNA 和杂种形成的。利用这种RNA,成功地进行了具有辅助作用的cDNA 的克隆化。这种物质有可能成为DMD 和BMD 的遗传基因的
In recent years, the attention paid to neurological diseases has obviously deepened. The research in this area has also made remarkable progress. This article mainly reviews the domestic and foreign literatures from September 1986 to August 1987, and introduces the advances in neurology and current problems. First, muscle disease In this area, the recent development of genetic analysis significantly. In 1985, a partial DNA fragment was cloned for the treatment of pseudo hypertrophic malnutrition (DMD) due to a method of performing a strand lock analysis using a polymorphic DNA fragment. Then, with the cooperation of more than 20 units in the world, the majority of cases of DMD and BMD (LIDD) were studied for the absence or deletion of the clone named pERT87. The results show that about 4 ~ 5% of the missing rate. Upon further investigation, it was found that one of the subclones obtained from the site of pERT87 is formed from RNA and hybrids obtained from human fetal skeletal muscle. Using this RNA, successful cloning of cDNA with ancillary effects was successfully performed. This substance is likely to become a genetic marker of DMD and BMD