Massari A, Gennarelli M, Menegazzo E, Pizzuti A, Silani V, Mastrogiacomo I, Pagani E, Angelini C, Scarlato G, Novelli G
Department of Public Health and Cell Biology, Tor Vergata University, Rome, Italy.
J Neurol. 1995 Jun;242(6):379-83. doi: 10.1007/BF00868393.
We have analysed the [AGC] expansion in leucocytes, muscle and sperm from 17 individuals affected by myotonic dystrophy (DM). Skeletal muscle showed a larger repeat number than leucocytes in the same patient. A similar degree of expansion was detected in differently affected muscles of a single patient. The germline mutation (< or = 350 repeats) was expanded in somatic cells of the progeny in all patients examined. Our results provide evidence of an early postzygotic instability of the [AGC] repeat in DM.
我们分析了17名强直性肌营养不良（DM）患者白细胞、肌肉和精子中的[AGC]重复序列。在同一患者中，骨骼肌的重复次数比白细胞多。在单例患者不同程度受累的肌肉中检测到相似程度的扩增。在所检测的所有患者后代的体细胞中，生殖系突变（≤350次重复）发生了扩增。我们的结果为DM中[AGC]重复序列在合子后早期的不稳定性提供了证据。
