1992年29卷11期“医学遗传学杂志”发表了一系列关于强直性肌营养不良症分子诊断研究方面的文章,本文是编辑部的综述,系统地介绍了强直性肌营养不良症分子诊断研究的现状和应用。许多资料表明,19号染色体上肌强直蛋白激酶基因是本病的候选基因。三联体(CTG)n拷贝数的增加与本病的发生有关,结合精确的临床资料,可以预测胎儿发病风险。 1992, Volume 29, Issue 11, “Journal of Medical Genetics” published a series of articles on molecular diagnosis of myotonic dystrophy articles, this is the editorial department review, systematically introduced the molecular diagnosis of muscular dystrophy research The status quo and application. Many sources indicate that on chromosome 19, the myotonic protein kinase gene is a candidate gene for this disease. Triplet (CTG) n copy number increases with the occurrence of this disease, combined with accurate clinical data, you can predict the risk of fetal disease.