Tachi N, Ohya K, Chiba S, Sato T, Kikuchi K
School of Health Sciences, Sapporo Medical University School of Medicine, Japan.
Pediatr Neurol. 1995 Jan;12(1):81-3. doi: 10.1016/0887-8994(94)00112-f.
The molecular basis of myotonic dystrophy was identified as an unstable trinucleotide (CTG) repeat in the 3' untranslated region of an mRNA encoding a member of the protein kinase family. Unstable DNA was analyzed from various tissue samples of a patient with severe congenital myotonic dystrophy. In BamHI- or BglI-digested DNA, a normal band plus differently expanded ones were identified in various tissue samples. These observations demonstrated somatic instability of the repeat in a congenital myotonic dystrophy patient.
强直性肌营养不良的分子基础被确定为编码蛋白激酶家族成员的mRNA的3'非翻译区中不稳定的三核苷酸（CTG）重复序列。对一名患有严重先天性强直性肌营养不良患者的各种组织样本中的不稳定DNA进行了分析。在经BamHI或BglI消化的DNA中，在各种组织样本中鉴定出一条正常条带以及不同程度扩增的条带。这些观察结果证明了先天性强直性肌营养不良患者中重复序列的体细胞不稳定性。
