Graninger W, Wintersberger W, Meron G, Smolen J, Toifl K, Vormittag W
II. Medizinische Universitätsklinik, Wien.
Wien Klin Wochenschr. 1991;103(7):207-9.
For the purpose of carrier identification and genetic counselling we investigated deletions of the Duchenne muscular dystrophy (DMD) gene in three families of patients with Duchenne muscular dystrophy. Using a limited number of probes of the DMD cDNA in Southern blots, we detected a deletion in only one patient. Additional methodology is necessary to warrant reliable identification of carriers and exact prenatal diagnosis.
为了进行携带者鉴定和遗传咨询，我们对三个杜氏肌营养不良症（DMD）患者家庭中的DMD基因缺失情况进行了调查。在Southern印迹分析中使用有限数量的DMD cDNA探针，我们仅在一名患者中检测到了缺失。需要额外的方法来确保可靠地鉴定携带者和进行准确的产前诊断。
