Wood S, Shukin R J, McGillivray B C, Ray P N, Worton R G
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Am J Med Genet. 1988 Feb;29(2):419-23. doi: 10.1002/ajmg.1320290225.
We report on two sisters with a history of muscle weakness and an electromyogram (EMG) diagnosis of Kugelberg-Welander syndrome (KWS) or juvenile spinal muscular atrophy. A half-brother to these women was diagnosed to have Duchenne muscular dystrophy (DMD). Using molecular probes, we identified a deletion within Xp21 in this isolated case of DMD. Sequences detected by pXJ1.1 are deleted, while fragments detected by pERT87 are intact. Both of these probes are derived from the DMD locus. We have shown that the affected sisters share with their half-brother DNA markers that are linked to the DMD gene and inherited from their maternal grandfather. Dosage analysis of Southern blots show monosomy for pXJ1.1, which has allowed us to determine carrier status within this family and to show that the half-sisters are manifesting DMD carriers.
我们报告了两名有肌肉无力病史且肌电图（EMG）诊断为库格尔贝格 - 韦兰德综合征（KWS）或青少年脊髓性肌萎缩症的姐妹。这两名女性的同父异母兄弟被诊断患有杜氏肌营养不良症（DMD）。我们使用分子探针，在这个孤立的DMD病例中鉴定出Xp21区域内的一个缺失。由pXJ1.1检测到的序列被删除，而由pERT87检测到的片段是完整的。这两种探针均源自DMD基因座。我们已经表明，受影响的姐妹与其同父异母兄弟共享与DMD基因连锁且从她们的外祖父遗传而来的DNA标记。Southern印迹的剂量分析显示pXJ1.1单体型，这使我们能够确定该家族中的携带者状态，并表明这两名同父异母姐妹是表现型DMD携带者。
